Updated on 2025/07/02

写真a

 
OHMORI Iori
 
Organization
Faculty of Education Professor
Position
Professor
External link

Degree

  • 医学博士 ( 1995.3   岡山大学 )

  • 医学 ( 岡山大学 )

Research Interests

  • 記憶・学習

  • ドラベ症候群

  • チオレドキシン

  • 慢性腎臓病

  • CACNA1A

  • てんかん

  • 電位依存性ナトリウムチャネル

  • 発達障害

  • Oxidative stress

  • 神経分子病態学

  • 神経疾患の病態と治療

  • SCN1A

  • 愛着行動

Research Areas

  • Life Science / Embryonic medicine and pediatrics

  • Life Science / Physiology

  • Life Science / Neuroscience-general

  • Life Science / Pathophysiologic neuroscience

  • Life Science / Genetics

  • Life Science / Genetics

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Professional Memberships

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Papers

  • Txn1mutation is a monogenic cause of chronic kidney disease associated with mitochondrial dysfunction in rats

    Iori Ohmori, Mamoru Ouchida, Yoshiko Hada, Haruhito A. Uchida, Shinya Toyokuni, Tomoji Mashimo

    BioRxiv   2023.8

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    Authorship：Lead author,　Corresponding author   Language：English   Publishing type：Research paper (scientific journal)  

    File： 2023.08.14.553187v1.full.pdf

    DOI： 10.1101/2023.08.14.553187

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  • Thioredoxin deficiency increases oxidative stress and causes bilateral symmetrical degeneration in rat midbrain. Reviewed International journal

    Iori Ohmori, Mamoru Ouchida, Hirohiko Imai, Saeko Ishida, Shinya Toyokuni, Tomoji Mashimo

    Neurobiology of disease   175   105921 - 105921   2022.11

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    Authorship：Lead author,　Corresponding author   Language：English   Publishing type：Research paper (scientific journal)   Publisher：Elsevier BV  

    Thioredoxin, encoded by Txn1, acts as a critical antioxidant in the defense against oxidative stress by regulating the dithiol/disulfide balance of interacting proteins. The role of thioredoxin in the central nervous system (CNS) is largely unknown. A phenotype-driven study of N-ethyl-N-nitrosourea-mutated rats with wild-running seizures revealed the importance of Txn1 mutations in CNS degeneration. Genetic mapping identified Txn1-F54L in the epileptic rats. The insulin-reducing activity of Txn1-F54L was approximately one-third of that of the wild-type (WT). Bilateral symmetrical vacuolar degeneration in the midbrain, mainly in the thalamus and the inferior colliculus, was observed in the Txn1-F54L rats. The lesions displayed neuronal and oligodendrocytic cell death. Neurons in Txn1-F54L rats showed morphological changes in the mitochondria. Vacuolar degeneration peaked at five weeks of age, and spontaneous repair began at seven weeks. The TUNEL assay showed that fibroblasts derived from homozygotes were susceptible to cell death under oxidative stress. In five-week-old WT rats, energy metabolism in the thalamus was significantly higher than that in the cerebral cortex. In conclusion, in juvenile rats, Txn1 seems to play an essential role in reducing oxidative stress in the midbrains with high energy metabolism.

    File： 2022 Thioredoxin deficiency increases oxidative stress.pdf

    DOI： 10.1016/j.nbd.2022.105921

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  • Novel animal model of combined generalized and focal epilepsy. Reviewed International journal

    Iori Ohmori, Mamoru Ouchida, Masakazu Shinohara, Kiyoka Kobayashi, Saeko Ishida, Tomoji Mashimo

    Epilepsia   63 ( 7 )   e80 - e85   2022.7

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    Authorship：Lead author,　Corresponding author   Language：English   Publishing type：Research paper (scientific journal)  

    Thioredoxin, encoded by Txn1, is a critical antioxidant that protects against oxidative damage by regulating the dithiol/disulfide balance of interacting proteins. We recently discovered the Adem rat, an epileptic rat harboring the Txn1-F54L mutation, characterized by wild running and vacuolar degeneration in the midbrain. This study aimed to characterize the classification of epilepsy in Adem rats. We performed simultaneous video-electroencephalographic recordings, magnetic resonance imaging, neurotransmitter measurements using gas chromatography-mass spectrometry (GC-MS), and immunohistochemistry. Adem rats exhibited absence, tonic, and focal seizures. The type of epilepsy was classified as combined generalized and focal epilepsy. Neurotransmitters in the midbrain and cortex were measured at 3 weeks of age, when neuronal cell death occurs in the midbrain. The results of GC-MS ruled out the dominance of the excitatory system in the midbrain and cortex of Adem rats. Activation of astrocytes and microglia was more pronounced at 5 weeks of age, at which time epileptic seizures occurred frequently. The underlying pathology in Adem rats remains unknown. However, glial cell activation and inflammation may play a significant role in the occurrence of epilepsy.

    File： 2022 Novel animal model of combined generalized and focal epilepsy.pdf

    DOI： 10.1111/epi.17295

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  • ナトリウムチャネル異常とてんかん Invited Reviewed

    大守(川﨑)伊織

    Epilepsy   18 ( 2 )   33 - 40   2024.12

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    Authorship：Lead author   Language：Japanese   Publishing type：Research paper (scientific journal)  

    File： 最終原稿_ナトリウムチャネルとてんかん.pdf

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  • Large-scale animal model study uncovers altered brain pH and lactate levels as a transdiagnostic endophenotype of neuropsychiatric disorders involving cognitive impairment Reviewed

    Hideo Hagihara, Hirotaka Shoji, Satoko Hattori, Giovanni Sala, Yoshihiro Takamiya, Mika Tanaka, Masafumi Ihara, Mihiro Shibutani, Izuho Hatada, Kei Hori, Mikio Hoshino, Akito Nakao, Yasuo Mori, Shigeo Okabe, Masayuki Matsushita, Anja Urbach, Yuta Katayama, Akinobu Matsumoto, Keiichi I Nakayama, Shota Katori, Takuya Sato, Takuji Iwasato, Haruko Nakamura, Yoshio Goshima, Matthieu Raveau, Tetsuya Tatsukawa, Kazuhiro Yamakawa, Noriko Takahashi, Haruo Kasai, Johji Inazawa, Ikuo Nobuhisa, Tetsushi Kagawa, Tetsuya Taga, Mohamed Darwish, Hirofumi Nishizono, Keizo Takao, Kiran Sapkota, Kazutoshi Nakazawa, Tsuyoshi Takagi, Haruki Fujisawa, Yoshihisa Sugimura, Kyosuke Yamanishi, Lakshmi Rajagopal, Nanette Deneen Hannah, Herbert Y Meltzer, Tohru Yamamoto, Shuji Wakatsuki, Toshiyuki Araki, Katsuhiko Tabuchi, Tadahiro Numakawa, Hiroshi Kunugi, Freesia L Huang, Atsuko Hayata-Takano, Hitoshi Hashimoto, Kota Tamada, Toru Takumi, Takaoki Kasahara, Tadafumi Kato, Isabella A Graef, Gerald R Crabtree, Nozomi Asaoka, Hikari Hatakama, Shuji Kaneko, Takao Kohno, Mitsuharu Hattori, Yoshio Hoshiba, Ryuhei Miyake, Kisho Obi-Nagata, Akiko Hayashi-Takagi, Léa J Becker, Ipek Yalcin, Yoko Hagino, Hiroko Kotajima-Murakami, Yuki Moriya, Kazutaka Ikeda, Hyopil Kim, Bong-Kiun Kaang, Hikari Otabi, Yuta Yoshida, Atsushi Toyoda, Noboru H Komiyama, Seth GN Grant, Michiru Ida-Eto, Masaaki Narita, Ken-ichi Matsumoto, Emiko Okuda-Ashitaka, Iori Ohmori, Tadayuki Shimada, Kanato Yamagata, Hiroshi Ageta, Kunihiro Tsuchida, Kaoru Inokuchi, Takayuki Sassa, Akio Kihara, Motoaki Fukasawa, Nobuteru Usuda, Tayo Katano, Teruyuki Tanaka, Yoshihiro Yoshihara, Michihiro Igarashi, Takashi Hayashi, Kaori Ishikawa, Satoshi Yamamoto, Naoya Nishimura, Kazuto Nakada, Shinji Hirotsune, Kiyoshi Egawa, Kazuma Higashisaka, Yasuo Tsutsumi, Shoko Nishihara, Noriyuki Sugo, Takeshi Yagi, Naoto Ueno, Tomomi Yamamoto, Yoshihiro Kubo, Rie Ohashi, Nobuyuki Shiina, Kimiko Shimizu, Sayaka Higo-Yamamoto, Katsutaka Oishi, Hisashi Mori, Tamio Furuse, Masaru Tamura, Hisashi Shirakawa, Daiki X Sato, Yukiko U Inoue, Takayoshi Inoue, Yuriko Komine, Tetsuo Yamamori, Kenji Sakimura, Tsuyoshi Miyakawa

    eLife   12   2024.3

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    Language：English   Publishing type：Research paper (scientific journal)   Publisher：eLife Sciences Publications, Ltd  

    Increased levels of lactate, an end-product of glycolysis, have been proposed as a potential surrogate marker for metabolic changes during neuronal excitation. These changes in lactate levels can result in decreased brain pH, which has been implicated in patients with various neuropsychiatric disorders. We previously demonstrated that such alterations are commonly observed in five mouse models of schizophrenia, bipolar disorder, and autism, suggesting a shared endophenotype among these disorders rather than mere artifacts due to medications or agonal state. However, there is still limited research on this phenomenon in animal models, leaving its generality across other disease animal models uncertain. Moreover, the association between changes in brain lactate levels and specific behavioral abnormalities remains unclear. To address these gaps, the International Brain pH Project Consortium investigated brain pH and lactate levels in 109 strains/conditions of 2294 animals with genetic and other experimental manipulations relevant to neuropsychiatric disorders. Systematic analysis revealed that decreased brain pH and increased lactate levels were common features observed in multiple models of depression, epilepsy, Alzheimer’s disease, and some additional schizophrenia models. While certain autism models also exhibited decreased pH and increased lactate levels, others showed the opposite pattern, potentially reflecting subpopulations within the autism spectrum. Furthermore, utilizing large-scale behavioral test battery, a multivariate cross-validated prediction analysis demonstrated that poor working memory performance was predominantly associated with increased brain lactate levels. Importantly, this association was confirmed in an independent cohort of animal models. Collectively, these findings suggest that altered brain pH and lactate levels, which could be attributed to dysregulated excitation/inhibition balance, may serve as transdiagnostic endophenotypes of debilitating neuropsychiatric disorders characterized by cognitive impairment, irrespective of their beneficial or detrimental nature.

    DOI： 10.7554/elife.89376

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    Other Link： https://cdn.elifesciences.org/articles/89376/elife-89376-v1.xml

  • 重症心身障害児に関する制度の変遷と家族の生活の質に関する課題―医療的ケア児支援法との関連に注目して― Reviewed

    池内由子, 大守(川﨑)伊織

    日本重症心身障害学会誌   49 ( 3 )   467 - 474   2024

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  • The Effect of a Film Viewing Intervention Added to Lectures to Improve University Students' Attitudes toward Sexual and Gender Minorities Reviewed

    Arata SASAKI, Iori OHMORI, Shawna, M. CARROLL

    Kawasaki Journal of Medical Welfare   28 ( 2 )   71 - 85   2023.3

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  • 就学時期のセクシュアルハラスメントに関する文献研究

    野田 夕月奈, 大守 伊織

    岡山大学教師教育開発センター紀要   13   315 - 325   2023.3

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    Publishing type：Research paper (scientific journal)  

    File： cted_013_315.pdf

    DOI： 10.18926/CTED/65081

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  • Difficulties and problems in teachers who educate sick children with chronic severe diseases Reviewed

    20 ( 2 )   65 - 74   2022.1

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    Language：Japanese   Publishing type：Research paper (scientific journal)  

    File： ●村上：レイアウトpdf 2021.12.14.pdf

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  • Txn1 mutation causes epilepsy associated with vacuolar degeneration in the midbrain

    Iori Ohmori, Mamoru Ouchida, Hirohiko Imai, Saeko Ishida, Shinya Toyokuni, Tomoji Mashimo

    bioRxiv   2021.10

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    Authorship：Lead author,　Corresponding author   Language：English   Publisher：Cold Spring Harbor Laboratory  

    <title>Abstract</title>Thioredoxin (TXN), encoded by <italic>Txn1</italic>, acts as a critical antioxidant in the defense against oxidative stress by regulating the dithiol/disulfide balance of interacting proteins. The role of TXN in the central nervous system (CNS) is largely unknown. A phenotype-driven study of <italic>N</italic>-ethyl-<italic>N</italic>-nitrosourea-mutated rats with running seizures at around five-week of age revealed the relevance of <italic>Txn1</italic> mutations to CNS disorders. Genetic mapping identified <italic>Txn1</italic>-F54L in epileptic rats. The insulin-reducing activity of <italic>Txn1</italic>-F54L rats was approximately one-third that of the wild-type. Vacuolar degeneration in the midbrain, mainly in the thalamus and the inferior colliculus, was observed in the <italic>Txn1</italic>-F54L rats. The lesions displayed neuronal and oligodendrocyte cell death. Neurons in <italic>Txn1</italic>-F54L rats showed morphological changes in the mitochondria. Vacuolar degeneration began at three weeks of age, and spontaneous repair began at seven weeks; a dramatic change from cell death to repair occurred in the midbrain during a restricted period. In conclusion, <italic>Txn1</italic> is essential for the development of the midbrain in juvenile rats.

    File： 2021.10.07.463470v1.full_Txn1.pdf

    DOI： 10.1101/2021.10.07.463470

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  • CUX2 mutations in temporal lobe epilepsy; increased kainate susceptibility and excitatory input to hippocampus in deficient mice

    Toshimitsu Suzuki, Tetsuya Tatsukawa, Genki Sudo, Caroline Delandre, Yun Jin Pai, Hiroyuki Miyamoto, Matthieu Raveau, Atsushi Shimohata, Iori Ohmori, Shin-ichiro Hamano, Kazuhiro Haginoya, Mitsugu Uematsu, Yukitoshi Takahashi, Masafumi Morimoto, Shinji Fujimoto, Hitoshi Osaka, Hirokazu Oguni, Makiko Osawa, Atsushi Ishii, Shinichi Hirose, Sunao Kaneko, Yushi Inoue, Adrian Walton Moore, Kazuhiro Yamakawa

    bioRxiv   2021.9

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    Language：English   Publisher：Cold Spring Harbor Laboratory  

    <title>Abstract</title><italic>CUX2</italic> gene encodes a transcription factor that controls neuronal proliferation, dendrite branching and synapse formation, locating at the epilepsy-associated chromosomal region 12q24 that we previously identified by a genome-wide association study (GWAS) in Japanese population. A <italic>CUX2</italic> recurrent <italic>de novo</italic> variant p.E590K has been described in patients with rare epileptic encephalopathies and the gene is a candidate for the locus, however the mutation may not be enough to generate the genome-wide significance in the GWAS and whether <italic>CUX2</italic> variants appear in other types of epilepsies and physiopathological mechanisms are remained to be investigated. Here in this study, we conducted targeted sequencings of <italic>CUX2</italic>, a paralog <italic>CUX1</italic> and its short isoform <italic>CASP</italic> harboring a unique C-terminus on 271 Japanese patients with a variety of epilepsies, and found that multiple <italic>CUX2</italic> missense variants, other than the p.E590K, and some <italic>CASP</italic> variants including a deletion, predominantly appeared in patients with temporal lobe epilepsy (TLE). Human cell culture and fly dendritic arborization analyses revealed loss-of- function properties for the <italic>CUX2</italic> variants. <italic>Cux2</italic>- and <italic>Casp</italic>-specific knockout mice both showed high susceptibility to kainate, increased excitatory cell number in the entorhinal cortex, and significant enhancement in glutamatergic synaptic transmission to the hippocampus. CASP and CUX2 proteins physiologically bound to each other and co-expressed in excitatory neurons in brain regions including the entorhinal cortex. These results suggest that <italic>CUX2</italic> and <italic>CASP</italic> variants contribute to the TLE pathology through a facilitation of excitatory synaptic transmission from entorhinal cortex to hippocampus.

    File： 2021.09.17.460803v1.full_CUX2.pdf

    DOI： 10.1101/2021.09.17.460803

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  • CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate Reviewed

    Toshimitsu Suzuki, Tetsuya Tatsukawa, Genki Sudo, Caroline Delandre, Yun Jin Pai, Hiroyuki Miyamoto, Matthieu Raveau, Atsushi Shimohata, Iori Ohmori, Shin-ichiro Hamano, Kazuhiro Haginoya, Mitsugu Uematsu, Yukitoshi Takahashi, Masafumi Morimoto, Shinji Fujimoto, Hitoshi Osaka, Hirokazu Oguni, Makiko Osawa, Atsushi Ishii, Shinichi Hirose, Sunao Kaneko, Yushi Inoue, Adrian Walton Moore, Kazuhiro Yamakawa

    Sci Rep.   12 ( 6505 )   2021.9

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    Language：English   Publishing type：Research paper (scientific journal)   Publisher：Cold Spring Harbor Laboratory  

    CUX2 gene encodes a transcription factor that controls neuronal proliferation, dendrite branching and synapse formation, locating at the epilepsy-associated chromosomal region 12q24 that we previously identified by a genome-wide association study (GWAS) in Japanese population. A CUX2 recurrent de novo variant p.E590K has been described in patients with rare epileptic encephalopathies and the gene is a candidate for the locus, however the mutation may not be enough to generate the genome-wide significance in the GWAS and whether CUX2 variants appear in other types of epilepsies and physiopathological mechanisms are remained to be investigated. Here in this study, we conducted targeted sequencings of CUX2, a paralog CUX1 and its short isoform CASP harboring a unique C-terminus on 271 Japanese patients with a variety of epilepsies, and found that multiple CUX2 missense variants, other than the p.E590K, and some CASP variants including a deletion, predominantly appeared in patients with temporal lobe epilepsy (TLE). The CUX2 variants showed abnormal localization in human cell culture analysis. While wild-type CUX2 enhances dendritic arborization in fly neurons, the effect was compromised by some of the variants. Cux2- and Casp-specific knockout mice both showed high susceptibility to kainate, increased excitatory cell number in the entorhinal cortex, and significant enhancement in glutamatergic synaptic transmission to the hippocampus. CASP and CUX2 proteins physiologically bound to each other and co-expressed in excitatory neurons in brain regions including the entorhinal cortex. These results suggest that CUX2 and CASP variants contribute to the TLE pathology through a facilitation of excitatory synaptic transmission from entorhinal cortex to hippocampus.

    DOI： 10.1101/2021.09.17.460803

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  • The Effects of Taking a Class on Knowledge about Sexual and Gender Minorities and Homophobia

    Bulletin of Center for Teacher Education and Development, Okayama University,   11 ( 11 )   75 - 88   2021.3

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    Authorship：Last author   Language：Japanese   Publishing type：Research paper (bulletin of university, research institution)  

    File： 2021 性的マイノリティに関する授業.pdf

    DOI： 10.18926/cted/61566

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  • A Review of Interventions for Students with Dyscalculia

    ( 11 )   293 - 306   2021

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    Authorship：Last author   Publishing type：Research paper (bulletin of university, research institution)  

    File： 2021 算数障害生徒への学習支援に関する文献レビュー.pdf

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  • 学校教員や心理職になり得る大学生の性的マイノリティへの態度に及ぼす講義の効果 Reviewed

    佐々木 新, 大守 伊織

    GID(性同一性障害)学会雑誌   13 ( 1 )   63 - 73   2020.12

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    Authorship：Last author   Language：Japanese   Publishing type：Research paper (scientific journal)   Publisher：GID(性同一性障害)学会  

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  • Scn1a and Cacna1a mutations mutually alter their original phenotypes in rats. Reviewed International journal

    Iori Ohmori, Kiyoka Kobayashi, Mamoru Ouchida

    Neurochemistry international   141   104859 - 104859   2020.12

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    Authorship：Lead author,　Corresponding author   Language：English   Publishing type：Research paper (scientific journal)   Publisher：Elsevier BV  

    This study aimed to examine the effects of Cacna1a mutation on the phenotype of Scn1a-associated epilepsy in rats. We used rats with an N1417H missense mutation in the Scn1a gene and others with an M251K mutation in the Cacna1a gene. Scn1a/Cacna1a double mutant rats were generated by mating both Scn1a and Cacna1a mutants. We investigated general health and the epileptic phenotype in all these genotypes. The onset threshold of hyperthermia-induced seizures was examined at 5 weeks and spontaneous seizures were monitored using video-EEG recordings from 6 to 12 weeks of age. Scn1a/Cacna1a double mutants showed significantly reduced threshold for hyperthermia-sensitive seizures onset compared with the Scn1a mutants and had absence seizures having 6-7 c/s spike-wave bursts with changes in the spike-wave pattern, whereas Cacna1a mutants had regular 6-7 c/s spike-wave bursts. In Scn1a/Cacna1a double mutants, 6-7 c/s spike-wave bursts were accompanied with eyelid myoclonia and continuously shifting generalized clonic seizures, which were not observed in either Scn1a or Cacna1a mutants. Although a curvature of the spine was observed in rats of all these genotypes, the degree of curvature was more pronounced in Scn1a/Cacna1a double mutants, followed by Cacna1a and Scn1a mutants. Our results indicate that Cacna1a and Scn1a mutations mutually alter their original phenotypes in rats. The phenotype of absence seizures with eyelid myoclonia, generalized clonic seizures, and of spine curvature in the Scn1a/Cacna1a double mutants were similar to that observed in patients with Dravet syndrome.

    File： 2020 Scn1a and Cacna1a mutations mutually alter their original phenotypes in rats.pdf

    DOI： 10.1016/j.neuint.2020.104859

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  • Thinking about Ways to Support Autonomy for Children with Cancer and Their Families using the Movie “My Sister’s Keeper”

    ( 174 )   15 - 23   2020.7

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  • A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders Reviewed International journal

    Toshimitsu Suzuki, Toshifumi Suzuki, Matthieu Raveau, Noriko Miyake, Genki Sudo, Yoshinori Tsurusaki, Takaki Watanabe, Yuki Sugaya, Tetsuya Tatsukawa, Emi Mazaki, Atsushi Shimohata, Itaru Kushima, Branko Aleksic, Tomoko Shiino, Tomoko Toyota, Yoshimi Iwayama, Kentaro Nakaoka, Iori Ohmori, Aya Sasaki, Ken Watanabe, Shinichi Hirose, Sunao Kaneko, Yushi Inoue, Takeo Yoshikawa, Norio Ozaki, Masanobu Kano, Takeyoshi Shimoji, Naomichi Matsumoto, Kazuhiro Yamakawa

    Annals of Clinical and Translational Neurology   7 ( 7 )   1117 - 1131   2020.7

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    Language：English   Publishing type：Research paper (scientific journal)   Publisher：Wiley  

    OBJECTIVE: Neurodevelopmental disorders (NDDs) often associate with epilepsy or craniofacial malformations. Recent large-scale DNA analyses identified hundreds of candidate genes for NDDs, but a large portion of the cases still remain unexplained. We aimed to identify novel candidate genes for NDDs. METHODS: We performed exome sequencing of 95 patients with NDDs including 51 with trigonocephaly and subsequent targeted sequencing of additional 463 NDD patients, functional analyses of variant in vitro, and evaluations of autism spectrum disorder (ASD)-like phenotypes and seizure-related phenotypes in vivo. RESULTS: We identified de novo truncation variants in nine novel genes; CYP1A1, C14orf119, FLI1, CYB5R4, SEL1L2, RAB11FIP2, ZMYND8, ZNF143, and MSX2. MSX2 variants have been described in patients with cranial malformations, and our present patient with the MSX2 de novo truncation variant showed cranial meningocele and partial epilepsy. MSX2 protein is known to be ubiquitinated by an E3 ubiquitin ligase PJA1, and interestingly we found a PJA1 hemizygous p.Arg376Cys variant recurrently in seven Japanese NDD patients; five with trigonocephaly and one with partial epilepsy, and the variant was absent in 886 Japanese control individuals. Pja1 knock-in mice carrying p.Arg365Cys, which is equivalent to p.Arg376Cys in human, showed a significant decrease in PJA1 protein amount, suggesting a loss-of-function effect of the variant. Pja1 knockout mice displayed moderate deficits in isolation-induced ultrasonic vocalizations and increased seizure susceptibility to pentylenetetrazole. INTERPRETATION: These findings propose novel candidate genes including PJA1 and MSX2 for NDDs associated with craniofacial abnormalities and/or epilepsy.

    File： 2020 A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.pdf

    DOI： 10.1002/acn3.51093

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    Other Link： https://onlinelibrary.wiley.com/doi/full-xml/10.1002/acn3.51093

  • Poor mother-offspring relationships in rats with Cacna1a mutation Reviewed

    Nozomi Kawakami, Kiyoka Kobayashi, Ayumu Nishimura, Iori Ohmori

    Experimental Animals   69 ( 2 )   153 - 160   2020.4

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    Authorship：Last author,　Corresponding author   Language：English   Publishing type：Research paper (scientific journal)   Publisher：Japanese Association for Laboratory Animal Science  

    File： 2020 Poor mother-offspring relationships in rats with Cacna1a mutation.pdf

    DOI： 10.1538/expanim.19-0086

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  • Action of antiepileptic drugs on neurons Reviewed

    Katsuhiro Kobayashi, Fumika Endoh, Iori Ohmori, Tomoyuki Akiyama

    Brain and Development   42 ( 1 )   2 - 5   2020.1

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    Language：English   Publishing type：Research paper (scientific journal)   Publisher：Elsevier BV  

    DOI： 10.1016/j.braindev.2019.07.006

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  • Adherence to Medication among Children with ADHD and their Parents

    ( 174 )   9 - 14   2020

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    File： 2020 ADHD患児とその保護者の服薬アドヒアランス調査.pdf

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  • PRRT2 mutations in Japanease patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia Reviewed International journal

    Okumura A, Shimojima K, Kurahashi H, Numoto S, Shimada S, Ishii A, Ohmori I, Takahashi S, Awaya T, Kubota T, Sakakibara T, Ishihara N, Hattori A, Torisu H, Tohyama J, Inoue T, Haibara A, Nishida T, Yuhara Y, Miya K, Tanaka R, Hirose S, Yamamoto T

    Seizure   71   1 - 5   2019.10

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    Language：English   Publishing type：Research paper (scientific journal)  

    PURPOSE: This study was performed to clarify the clinical features of Japanese patients with PRRT2 mutations. METHODS: The PRRT2 gene was analyzed in 135 patients with benign infantile epilepsy (BIE) or paroxysmal kinesigenic dyskinesia (PKD) using a direct sequencing method: 92 patients had BIE alone, 25 had both BIE and PKD, and 18 had PKD alone. Of the cases, 105 were familial, and 30 were sporadic. Clinical information was collected using a structured questionnaire. RESULTS: PRRT2 mutations were identified in 104 patients. Among the familial cases, PRRT2 mutations were found in at least one individual in 21 of 28 families with BIE alone, in 26 of 27 families with infantile convulsions and choreoathetosis, and in 2 of 3 families with PKD alone. Among the sporadic cases, PRRT2 mutations were observed in 7 of 25 patients with BIE alone, in 1 of 1 patient with BIE and PKD, and in 3 of 4 patients with PKD alone. The c.649dupC mutation was the most frequent, followed by the c.981C > G mutation. Among the patients with epilepsy, the median age at BIE onset was 5 months, the median age at the last seizure was 6 months, and the median number of seizures was 5. CONCLUSION: PRRT2 mutations were found in 68% of Japanese probands with BIE or PKD. The phenotypes of BIE associated with PRRT2 mutations were consistent with those of BIE diagnosed clinically.

    DOI： 10.1016/j.seizure.2019.05.017

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  • Difficulties in school life can be seen from the medical records of patients with gender dysphoria Reviewed

    Amano Yumi, Sasaki Arata, Matsumoto Yosuke, Ohmori Iori

    ( 20 )   39 - 48   2019.3

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    Authorship：Last author,　Corresponding author   Publishing type：Research paper (scientific journal)  

    File： 2019 性別違和をもつ患者の診療録から見える格好生活場面での困難さ.pdf

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  • 成人期以降の性的マイノリティ当事者が 学校生活を振り返って，学校教育に求めること

    佐々木新, 天野佑美, 大守伊織

    岡山大学大学院教育学研究科研究集録   ( 171 )   39 - 46   2019

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  • 年齢依存性てんかん性脳症の分子病態解析

    大内田守, 真下知士, 豊國伸哉, 大守伊織

    てんかん治療研究振興財団   30   37 - 44   2019

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  • Is Same-sex Marriage Acceptable in Japan? Reference to Same-sex Marriage Acceptance in Other Countries

    2019

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  • 性的マイノリティ当事者の語りは聴き手の性的マイノリティへの印象や 当惑感を改善する Reviewed

    前本浩希, 佐々木新, 大守伊織

    GID (性同一性障害) 学会雑誌   ( 12 )   103 - 110   2019

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  • 学校教員や心理職になり得る大学生の性的マイノリティへの態度と関連する要因 Reviewed

    佐々木新, 大守伊織

    GID(性同一性障害)学会雑誌   ( 12 )   41 - 49   2019

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  • Trends in research concerning school re-entry support for children with chronic illness.

    Murakami R, Ohmori I

    Bulletin of center for teacher education   8   181 - 191   2018

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  • A case of Dravet syndrome with cortical myoclonus indicated by jerk-locked back-averaging of electroencephalogram data Reviewed

    Yoshinori Kobayashi, Yoshiyuki Hanaoka, Tomoyuki Akiayma, Iori Ohmori, Mamoru Ouchida, Toshiyuki Yamamoto, Makio Oka, Harumi Yoshinaga, Katsuhiro Kobayashi

    BRAIN & DEVELOPMENT   39 ( 1 )   75 - 79   2017.1

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    DOI： 10.1016/j.braindev.2016.07.005

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  • PRRT2遺伝子変異を認めたepisodic ataxiaの女児

    柴田 敬, 岡 牧郎, 小林 勝弘, 大内田 守, 大守 伊織

    脳と発達   48 ( 6 )   446 - 446   2016.11

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  • Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS Reviewed

    M. Saitoh, K. Kobayashi, I. Ohmori, Y. Tanaka, K. Tanaka, T. Inoue, A. Horino, K. Ohmura, A. Kumakura, Y. Takei, S. Hirabayashi, M. Kajimoto, T. Uchida, S. Yamazaki, T. Shiihara, T. Kumagai, M. Kasai, H. Terashima, M. Kubota, M. Mizuguchi

    JOURNAL OF THE NEUROLOGICAL SCIENCES   368   272 - 276   2016.9

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    DOI： 10.1016/j.jns.2016.07.040

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  • 日本におけるPRRT2関連てんかんの臨床的様相(A clinical picture of PRRT2-related epilepsy in Japan)

    Kurahashi Hirokazu, 奥村 彰久, 五十嵐 鮎子, 安部 信平, 高須 倫彦, 小林 勝弘, 大守 伊織, 大内田 まもる, 石井 敦士, 廣瀬 伸一, 高橋 悟, 粟屋 智就, 山本 俊至

    てんかん研究   34 ( 2 )   395 - 395   2016.9

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  • 医療機器の臨床研究に関するアンケート調査と新指針対応の研究計画書定型書式の作成

    住谷 昌彦, 清水 公治, 伊藤 達也, 倉田 真由美, 戸田 聡一郎, 川上 浩司, 岩江 荘介, 大守 伊織, 戸高 浩司, 村山 敏典, 山本 晴子

    医療機器学   86 ( 2 )   252 - 252   2016.4

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  • Survey results on the implementation of clinical research using the medical equipment Reviewed

    Iryou kikigaku (The Japanese journal of medical instrumentation)   86 ( 5 )   482 - 488   2016

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    DOI： 10.4286/jjmi.86.482

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    Other Link： http://search.jamas.or.jp/link/ui/2017045190

  • Action potentials contribute to epileptic high-frequency oscillations recorded with electrodes remote from neurons Reviewed

    Katsuhiro Kobayashi, Tomoyuki Akiyama, Iori Ohmori, Harumi Yoshinaga, Jean Gotman

    CLINICAL NEUROPHYSIOLOGY   126 ( 5 )   873 - 881   2015.5

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    DOI： 10.1016/j.clinph.2014.08.010

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  • Methylphenidate improves learning impairments and hyperthermia-induced seizures caused by an Scn1a mutation Reviewed

    Iori Ohmori, Nozomi Kawakami, Sumei Liu, Haijiao Wang, Ikuko Miyazaki, Masato Asanuma, Hiroyuki Michiue, Hideki Matsui, Tomoji Mashimo, Mamoru Ouchida

    EPILEPSIA   55 ( 10 )   1558 - 1567   2014.10

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    DOI： 10.1111/epi.12750

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  • 遺伝学的検査をめぐる国際動向―欧米と中国の動き Reviewed

    岩江荘介, 大守伊織, 小杉眞司

    こころの科学「遺伝診断の未来と罠」pp.58-63 日本評論社   58 - 63   2014.9

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  • The transdermal inhibition of melanogenesis by a cell-membrane-permeable peptide delivery system based on poly-arginine Reviewed

    Nanako Ookubo, Hiroyuki Michiue, Mizuki Kitamatsu, Maho Kamamura, Tei-ichi Nishiki, Iori Ohmori, Hideki Matsui

    BIOMATERIALS   35 ( 15 )   4508 - 4516   2014.5

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    DOI： 10.1016/j.biomaterials.2014.01.052

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  • The acceleration of boron neutron capture therapy using multi-linked mercaptoundecahydrododecaborate (BSH) fused cell-penetrating peptide Reviewed

    Hiroyuki Michiue, Yoshinori Sakurai, Natsuko Kondo, Mizuki Kitamatsu, Feng Bin, Kiichiro Nakajima, Yuki Hirota, Shinji Kawabata, Tei-ichi Nishiki, Iori Ohmori, Kazuhito Tomizawa, Shin-ichi Miyatake, Koji Ono, Hideki Matsui

    BIOMATERIALS   35 ( 10 )   3396 - 3405   2014.3

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    DOI： 10.1016/j.biomaterials.2013.12.055

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  • Novel multi-linked mercaptoundecahydrododecaborate (BSH) fused cellpenetrating peptide accelerated boron neutron capture therapy (BNCT)

    H.Michiue, Y.Sakurai, N.Kondo, M.Kitamatsu, F.Bin, K.Nakajima, Y.Hirota, S.Kawabata, T.Nishiki, I.Ohmori, K.Tomizawa, S.Miyatake, K.Ono, H.Matsui

    Book of Abstracts for 16th International Congress on Neutron Capture Therapy, Cancer Society of Finland   187 - 188   2014

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  • 乳児期早期に皮質性ミオクローヌスを認めたDravet症候群の一例

    小林 由典, 秋山 倫之, 中尻 智史, 柴田 敬, 井上 拓志, 小林 勝弘, 大守 伊織, 大内田 守, 吉永 治美

    臨床神経生理学   41 ( 5 )   490 - 490   2013.10

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  • Inhalation of 10% carbon dioxide rapidly terminates Scn1a mutation-related hyperthermia-induced seizures Reviewed

    Iori Ohmori, Keiichiro Hayashi, Haijiao Wang, Mamoru Ouchida, Naohiro Fujita, Takushi Inoue, Hiroyuki Michiue, Teiichi Nishiki, Hideki Matsui

    EPILEPSY RESEARCH   105 ( 1-2 )   220 - 224   2013.7

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    DOI： 10.1016/j.eplepsyres.2013.01.003

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  • ICCA症候群および乳児期発症良性痙攣性疾患におけるPRRT2遺伝子解析

    大内田 守, 小林 勝弘, 榎 日出夫, 横田 卓也, 伊予田 邦昭, 吉永 治美, 大守 伊織

    脳と発達   45 ( Suppl. )   S375 - S375   2013.5

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  • CACNA1A遺伝子変異/多型がドラベ症候群の臨床症状に及ぼす影響

    大守 伊織, 小林 勝弘, 大内田 守, 大塚 頌子

    脳と発達   45 ( Suppl. )   S320 - S320   2013.5

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  • 症候の異なる発作性ジスキネジアにおけるPRRT2遺伝子変異の有無

    榎 日出夫, 横田 卓也, 大守 伊織, 大内田 守, 小林 勝弘

    脳と発達   45 ( Suppl. )   S374 - S374   2013.5

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  • ドラベ症候群で検出されるCACNA1A遺伝子変異の電気生理学的特性

    大守 伊織, 大内田 守

    脳と発達   45 ( Suppl. )   S349 - S349   2013.5

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  • ICCA症候群に片麻痺性片頭痛を合併した1家系

    大守 伊織, 大内田 守, 小林 勝弘, 吉永 治美

    脳と発達   45 ( Suppl. )   S378 - S378   2013.5

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  • CACNA1A variants may modify the epileptic phenotype of Dravet syndrome Reviewed

    Iori Ohmori, Mamoru Ouchida, Katsuhiro Kobayashi, Yoshimi Jitsumori, Akiko Mori, Hiroyuki Michiue, Teiichi Nishiki, Yoko Ohtsuka, Hideki Matsui

    NEUROBIOLOGY OF DISEASE   50   209 - 217   2013.2

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    DOI： 10.1016/j.nbd.2012.10.016

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  • High-frequency EEG oscillations in hyperthermia-induced seizures of Scn1a mutant rats Reviewed

    Katsuhiro Kobayashi, Iori Ohmori, Keiichiro Hayashi, Yuichiro Kitagawa, Mamoru Ouchida, Takushi Inoue, Yoko Ohtsuka

    EPILEPSY RESEARCH   103 ( 2-3 )   161 - 166   2013.2

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    DOI： 10.1016/j.eplepsyres.2012.07.020

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  • 脳波異常から診断に至ったAngelman症候群とRett症候群の4症例

    桃木 恵美子, 吉永 治美, 林 裕美子, 岡 牧郎, 小林 勝弘, 大守 伊織, 斎藤 伸治

    日本小児科学会雑誌   117 ( 2 )   407 - 407   2013.2

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  • Acute encephalopathy with a novel point mutation in the SCN2A gene Reviewed

    Katsuhiro Kobayashi, Hiroki Ohzono, Mayu Shinohara, Makiko Saitoh, Iori Ohmori, Yoko Ohtsuka, Masashi Mizuguchi

    EPILEPSY RESEARCH   102 ( 1-2 )   109 - 112   2012.11

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    DOI： 10.1016/j.eplepsyres.2012.04.016

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  • Combining poly-arginine with the hydrophobic counter-anion 4-(1-pyrenyl)-butyric acid for protein transduction in transdermal delivery Reviewed

    Gerile Candan, Hiroyuki Michiue, Sanae Ishikawa, Atsushi Fujimura, Keiichiro Hayashi, Atsuhito Uneda, Akiko Mori, Iori Ohmori, Tei-ichi Nishiki, Hideki Matsui, Kazuhito Tomizawa

    BIOMATERIALS   33 ( 27 )   6468 - 6475   2012.9

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    DOI： 10.1016/j.biomaterials.2012.04.056

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  • SCN9A遺伝子変異/多型がドラベ症候群の臨床型に及ぼす影響

    大守 伊織, Wang Haijiao, 大内田 守, 小林 勝弘, 松井 秀樹

    てんかん研究   30 ( 2 )   358 - 358   2012.9

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  • Therapy for hyperthermia-induced seizures in Scn1a mutant rats

    124 ( 2 )   115 - 117   2012.8

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    DOI： 10.4044/joma.124.115

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  • A protein transduction method using oligo-arginine (3R) for the delivery of transcription factors into cell nuclei Reviewed

    Takashi Hitsuda, Hiroyuki Michiue, Mizuki Kitamatsu, Atsushi Fujimura, Feifei Wang, Takahiro Yamamoto, Xiao-Jian Han, Hiroshi Tazawa, Atsuhito Uneda, Iori Ohmori, Tei-ichi Nishiki, Kazuhito Tomizawa, Hideki Matsui

    BIOMATERIALS   33 ( 18 )   4665 - 4672   2012.6

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    DOI： 10.1016/j.biomaterials.2012.02.049

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  • RGS2 mediates the anxiolytic effect of oxytocin Reviewed

    Naoki Okimoto, Oliver J. Bosch, David A. Slattery, Konstanze Pflaum, Hiroaki Matsushita, Fan-Yan Wei, Masayasu Ohmori, Tei-ichi Nishiki, Iori Ohmori, Yuji Hiramatsu, Hideki Matsui, Inga D. Neumann, Kazuhito Tomizawa

    BRAIN RESEARCH   1453   26 - 33   2012.5

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    DOI： 10.1016/j.brainres.2012.03.012

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  • P/Q型電位依存性カルシウムチャネル変異に伴う発達障害

    大内田 守, 大守 伊織

    脳と発達   44 ( Suppl. )   S302 - S302   2012.5

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  • Scn1a遺伝子変異ラットにおける発達障害

    大守 伊織, 大内田 守

    脳と発達   44 ( Suppl. )   S205 - S205   2012.5

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  • 熱性けいれん既往患者におけるSCN9A遺伝子解析

    大守 伊織, 小林 勝弘, 大内田 守

    脳と発達   44 ( Suppl. )   S232 - S232   2012.5

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  • Additional information regarding "Dravet syndrome: Inroads into understanding epileptic encephalopathies" Reviewed

    Katsuhiro Kobayashi, Yoko Ohtsuka, Iori Ohmori

    JOURNAL OF PEDIATRICS   160 ( 3 )   532 - 533   2012.3

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    DOI： 10.1016/j.jpeds.2011.11.058

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  • Ca2+-independent syntaxin binding to the C2B effector region of synaptotagmin Reviewed

    Toshio Masumoto, Koichiro Suzuki, Iori Ohmori, Hiroyuki Michiue, Kazuhito Tomizawa, Atsushi Fujimura, Tei-ichi Nishiki, Hideki Matsui

    MOLECULAR AND CELLULAR NEUROSCIENCE   49 ( 1 )   1 - 8   2012.1

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    DOI： 10.1016/j.mcn.2011.09.007

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  • Acute encephalopathy in children with Dravet syndrome Reviewed

    Akihisa Okumura, Mitsugu Uematsu, George Imataka, Manabu Tanaka, Tohru Okanishi, Tetsuo Kubota, Akira Sudo, Jun Tohyama, Megumi Tsuji, Iori Ohmori, Misako Naiki, Ayako Hiraiwa-Sofue, Hitoshi Sato, Shinji Saitoh, Toshiaki Shimizu

    EPILEPSIA   53 ( 1 )   79 - 86   2012.1

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    DOI： 10.1111/j.1528-1167.2011.03311.x

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  • ANTIDEPRESSANT-LIKE EFFECT OF SILDENAFIL THROUGH OXYTOCIN-DEPENDENT CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN PHOSPHORYLATION Reviewed

    H. Matsushita, M. Matsuzaki, X-J. Han, T. -I. Nishiki, I. Ohmori, H. Michiue, H. Matsui, K. Tomizawa

    NEUROSCIENCE   200   13 - 18   2012.1

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    DOI： 10.1016/j.neuroscience.2011.11.001

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  • Dravet syndrome with an exceptionally good seizure outcome in two adolescents Reviewed

    Katsuhiro Kobayashi, Iori Ohmori, Mamoru Ouchida, Yoko Ohtsuka

    EPILEPTIC DISORDERS   13 ( 3 )   340 - 344   2011.9

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    DOI： 10.1684/epd.2011.0453

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  • Scn1a遺伝子変異による熱性けいれんの二酸化炭素吸入療法

    大守 伊織, 大内田 守, 王 海こう, 林 桂一郎, 松井 秀樹

    てんかん研究   29 ( 2 )   251 - 251   2011.9

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  • Scn1a変異ラットの高体温誘発発作における高周波振動

    小林 勝弘, 大守 伊織, 林 桂一郎, 大内田 守, 井上 拓志, 大塚 頌子

    てんかん研究   29 ( 2 )   251 - 252   2011.9

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  • 代謝性および呼吸性アシドーシスはCacna1a変異ラットの欠神発作を抑制する

    大内田 守, 改田 祐子, 大守 伊織, 上原 孝, 松井 秀樹

    てんかん研究   29 ( 2 )   382 - 382   2011.9

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  • Therapy for hyperthermia-induced seizures in Scn1a mutant rats Reviewed

    Keiichiro Hayashi, Satoshi Ueshima, Mamoru Ouchida, Tomoji Mashimo, Teiichi Nishiki, Toshiaki Sendo, Tadao Serikawa, Hideki Matsui, Iori Ohmori

    EPILEPSIA   52 ( 5 )   1010 - 1017   2011.5

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    DOI： 10.1111/j.1528-1167.2011.03046.x

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  • Expression of a Constitutively Active Calcineurin Encoded by an Intron-Retaining mRNA in Follicular Keratinocytes Reviewed

    Atsushi Fujimura, Hiroyuki Michiue, Tei-ichi Nishiki, Iori Ohmori, Fan-Yan Wei, Hideki Matsui, Kazuhito Tomizawa

    PLOS ONE   6 ( 3 )   e17685   2011.3

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    DOI： 10.1371/journal.pone.0017685

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  • Regulation of Mitochondrial Dynamics and Neurodegenerative Diseases Reviewed

    Xiao-Jian Han, Kazuhito Tomizawa, Atsushi Fujimura, Iori Ohmori, Tei-ichi Nishiki, Masayuki Matsushita, Hideki Matsui

    ACTA MEDICA OKAYAMA   65 ( 1 )   1 - 10   2011.2

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  • 遺伝子検査が診断に有用であった非典型的Rett症候群の1例

    松岡 剛司, 葛原 誠人, 大塚 頌子, 清水 憲二, 大内田 守, 大守 伊織

    日本小児科学会雑誌   114 ( 11 )   1756 - 1756   2010.11

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  • Oxytocin mediates the antidepressant effects of mating behavior in male mice Reviewed

    Hiroaki Matsushita, Kazuhito Tomizawa, Naoki Okimoto, Tei-ichi Nishiki, Iori Ohmori, Hideki Matsui

    NEUROSCIENCE RESEARCH   68 ( 2 )   151 - 153   2010.10

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    DOI： 10.1016/j.neures.2010.06.007

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  • Genetic seizure susceptibility underlying acute encephalopathies in childhood Reviewed

    Katsuhiro Kobayashi, Mamoru Ouchida, Akihisa Okumura, Yoshihiro Maegaki, Itsuko Nishiyama, Hideki Matsui, Yoko Ohtsuka, Iori Ohmori

    EPILEPSY RESEARCH   91 ( 2-3 )   143 - 152   2010.10

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    DOI： 10.1016/j.eplepsyres.2010.07.005

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  • Nationwide survey (incidence, clinical course, prognosis) of Rasmussen&apos;s encephalitis Reviewed

    Ayako Muto, Hirokazu Oguni, Yukitoshi Takahashi, Yukiyoshi Shirasaka, Yukio Sawaishi, Tamami Yano, Toru Hoshida, Hitoshi Osaka, Satoru Nakasu, Noriyuki Akasaka, Kenji Sugai, Akie Miyamoto, Satoru Takahashi, Motomasa Suzuki, Iori Ohmori, Shin Nabatame, Makiko Osawa

    BRAIN & DEVELOPMENT   32 ( 6 )   445 - 453   2010.6

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    DOI： 10.1016/j.braindev.2009.10.004

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  • A Missense Mutation of the Gene Encoding Voltage-Dependent Sodium Channel (Na(v)1.1) Confers Susceptibility to Febrile Seizures in Rats Reviewed

    Tomoji Mashimo, Iori Ohmori, Mamoru Ouchida, Yukihiro Ohno, Toshiko Tsurumi, Takafumi Miki, Minoru Wakamori, Shizuka Ishihara, Takashi Yoshida, Akiko Takizawa, Megumi Kato, Masumi Hirabayashi, Masashi Sasa, Yasuo Mori, Tadao Serikawa

    JOURNAL OF NEUROSCIENCE   30 ( 16 )   5744 - 5753   2010.4

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    DOI： 10.1523/JNEUROSCI.3360-09.2010

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  • てんかん関連変異型ナトリウムチャネルNav1.1に対する抗てんかん薬の薬理効果

    大守伊織, 林桂一郎

    てんかん治療研究振興財団研究年報   21   43 - 48   2010

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  • 2種類のチャネル機能異常をもつ乳児重症ミオクロニーてんかん

    大守 伊織, 御牧 信義, 大内田 守

    脳と発達   41 ( Suppl. )   S241 - S241   2009.5

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  • Hyperthermia-induced seizure-susceptible rats: a novel model of febrile seizures

    Tomoji Mashimo, Iori Ohmori, Mamoru Ouchida, Yukihiro Ohno, Toshiko Tsurumi, Takafumi Miki, Minoru Wakamori, Yasuo Mori, Tadao Serikawa

    NEUROSCIENCE RESEARCH   65   S47 - S47   2009

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    DOI： 10.1016/j.neures.2009.09.084

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  • Ca(v)2.1 DYSFUNCTION MAY BE A GENETIC MODIFIER OF SEVERE MYOCLONIC EPILEPSY IN INFANCY

    Iori Ohmori, Mamoru Ouchida, Takafumi Miki, Nobuyoshi Mimaki, Shigeki Kiyonaka, Teiichi Nishiki, Kazuhito Tomizawa, Yasuo Mori, Hideki Matsui

    JOURNAL OF PHYSIOLOGICAL SCIENCES   59   515 - 515   2009

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  • A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy Reviewed

    Iori Ohmori, Mamoru Ouchida, Takafumi Miki, Nobuyoshi Mimaki, Shigeki Kiyonaka, Teiichi Nishiki, Kazuhito Tomizawa, Yasuo Mori, Hideki Matsui

    NEUROBIOLOGY OF DISEASE   32 ( 3 )   349 - 354   2008.12

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    DOI： 10.1016/j.nbd.2008.07.017

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  • Novel SCN5A Mutations and SNP in Patients with Brugada Syndrome

    Kazufumi Nakamura, Daiji Miura, Kaoru Kobayashi, Mamoru Ouchida, Kenji Shimizu, Iori Ohmori, Nobuhiro Nishii, Satoshi Nagase, Hiroshi Morita, Yoshiki Hata, Takefumi Oka, Kengo Kusano, Tohru Ohe

    CIRCULATION   118 ( 18 )   S981 - S981   2008.10

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  • MECP2遺伝子エキソン1およびプロモーター領域に変異をもつレット症候群

    大内田 守, 吉永 治美, 大守 伊織, 大塚 頌子, 岡 えい次

    脳と発達   40 ( Suppl. )   S288 - S288   2008.5

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  • A screening test for the prediction of Dravet syndrome before one year of age Reviewed

    Junri Hattori, Mamoru Ouchida, Junko Ono, Susumu Miyake, Satoshi Maniwa, Nobuyoshi Mimaki, Yoko Ohtsuka, Iori Ohmori

    EPILEPSIA   49 ( 4 )   626 - 633   2008.4

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    DOI： 10.1111/j.1528-1167.2007.01475.x

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  • Rasmussen encephalitis associated with SCN1A mutation Reviewed

    Iori Ohmori, Mamoru Ouchida, Katsuhiro Kobayashi, Yoshimi Jitsumori, Takushi Inoue, Kenji Shimizu, Hideki Matsui, Yoko Ohtsuka, Yoshihiro Maegaki

    EPILEPSIA   49 ( 3 )   521 - 526   2008.3

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    DOI： 10.1111/j.1528-1167.2007.01411.x

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  • Development of bionanocapsules targeting brain tumors Reviewed

    Yumi Tsutsui, Kazuhito Tomizawa, Mana Nagita, Hiroyuki Michiue, Tei-ichi Nishiki, Iori Ohmori, Masaharu Seno, Hideki Matsui

    JOURNAL OF CONTROLLED RELEASE   122 ( 2 )   159 - 164   2007.9

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    DOI： 10.1016/j.jconrel.2007.06.019

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  • A Cdk5 inhibitor enhances the induction of insulin secretion by exendin-4 both in vitro and in vivo Reviewed

    Kohsuke Kitani, Shigeo Oguma, Tei-Ichi Nishiki, Iori Ohmori, Herve Galons, Hideki Matsui, Laurent Meijer, Kazuhito Tomizawa

    JOURNAL OF PHYSIOLOGICAL SCIENCES   57 ( 4 )   235 - 239   2007.8

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    DOI： 10.2170/physiolsci.RP006607

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  • Truncations of amphiphysin I by calpain inhibit vesicle endocytosis during neural hyperexcitation Reviewed

    Yumei Wu, Shuang Liang, Yoshiya Oda, Iori Ohmori, Tei-Ichi Nishiki, Kohji Takei, Hideki Matsui, Kazuhito Tomizawa

    EMBO JOURNAL   26 ( 12 )   2981 - 2990   2007.6

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    DOI： 10.1038/sj.emboj.7601741

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  • SCN1A遺伝子変異I1616Tの臨床型

    服部 旬里, 御牧 信義, 大守 伊織, 大野 順子, 大内田 守, 大塚 頌子

    脳と発達   39 ( Suppl. )   S154 - S154   2007.6

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  • Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy Reviewed

    Iori Ohmori, Kristopher M. Kahlig, Thomas H. Rhodes, Dao W. Wang, Alfred L. George

    EPILEPSIA   47 ( 10 )   1636 - 1642   2006.10

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    DOI： 10.1111/j.1528-1167.2006.00643.x

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  • Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures Reviewed

    TH Rhodes, CG Vanoye, Ohmori, I, Ogiwara, I, K Yamakawa, AL George

    JOURNAL OF PHYSIOLOGY-LONDON   569 ( 2 )   433 - 445   2005.12

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    DOI： 10.1113/jphysiol.2005.094326

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  • Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures Reviewed

    M Ito, Ohmori, I, T Nakahori, M Ouchida, Y Ohtsuka

    NEUROSCIENCE LETTERS   383 ( 3 )   220 - 224   2005.8

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    DOI： 10.1016/j.neulet.2005.04.017

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  • Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms Reviewed

    T Fukuda, Y Yamashita, S Nagamitsu, K Miyamoto, JJ Jin, I Ohmori, Y Ohtsuka, K Kuwajima, S Endo, T Iwai, H Yamagata, Y Tabara, T Miki, T Matsuishi, Kondo, I

    BRAIN & DEVELOPMENT   27 ( 3 )   211 - 217   2005.4

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    DOI： 10.1016/j.braindev.2004.06.003

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  • Relationship between severity of epilepsy and developmental outcome in Angelman syndrome Reviewed

    Y Ohtsuka, K Kobayashi, H Yoshinaga, T Ogino, I Ohmori, K Ogawa, E Oka

    BRAIN & DEVELOPMENT   27 ( 2 )   95 - 100   2005.3

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    DOI： 10.1016/j.braindev.2003.09.015

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  • Relation between typical and borderline severe myoclonic epilepsy in infancy. Reviewed

    Y Ohtsuka, Ohmori, I, T Ogino, K Kobayashi, E Oka

    EPILEPSIA   46   11 - 12   2005

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  • EEG in childhood absence epilepsy Reviewed

    H Yoshinaga, Y Ohtsuka, K Tamai, Tamura, I, M Ito, Ohmori, I, E Oka

    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY   13 ( 5 )   296 - 302   2004.7

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    DOI： 10.1016/S1059-1311(03)00196-1

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  • Clinical and electroencephalographic characteristics of children with febrile seizures plus Reviewed

    K Kobayashi, Y Ohtsuka, I Ohmori, Y Nishio, M Fujiwara, M Ito, E Oka

    BRAIN & DEVELOPMENT   26 ( 4 )   262 - 268   2004.6

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    DOI： 10.1016/S0387-7604(03)00134-7

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  • Initiation of treatment and selection of antiepileptic drugs in childhood epilepsy Reviewed

    E Oka, T Murakami, T Ogino, T Kobayashi, Ohmori, I, T Akiyama, M Ito

    EPILEPSIA   45   17 - 19   2004

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  • Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations? Reviewed

    Ohmori, I, Y Ohtsukaa, M Ouchida, T Ogino, S Maniwa, K Shimizu, E Oka

    BRAIN & DEVELOPMENT   25 ( 7 )   488 - 493   2003.10

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    DOI： 10.1016/S0387-7604(03)00038-X

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  • Paroxysmal movement disorders in severe myoclonic epilepsy in infancy Reviewed

    Y Ohtsuka, Ohmori, I, T Ogino, M Ouchida, K Shimizu, E Oka

    BRAIN & DEVELOPMENT   25 ( 6 )   401 - 405   2003.9

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    DOI： 10.1016/S0387-7604(03)00025-1

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  • Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy Reviewed

    Ohmori, I, M Ouchida, Y Ohtsuka, E Oka, K Shimizu

    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS   295 ( 1 )   17 - 23   2002.7

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    DOI： 10.1016/S0006-291X(02)00617-4

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  • The relationship between paroxysmal kinesigenic choreoathetosis and epilepsy Reviewed

    Ohmori, I, Y Ohtsuka, T Ogino, H Yoshinaga, K Kobayashi, E Oka

    NEUROPEDIATRICS   33 ( 1 )   15 - 20   2002.2

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    DOI： 10.1055/s-2002-23594

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  • てんかんを伴う結節性硬化症の表現型と遺伝型の関連性 Invited

    大守伊織, 大塚頌子, 岡えい次, 濃野勉

    てんかん治療研究振興財団研究年報   13   125 - 130   2001.11

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  • A population-based neuroepidemiological survey of West syndrome in Okayama Prefecture, Japan Reviewed

    E Oka, N Murakami, Ohmori, I, T Ogino

    BRAIN & DEVELOPMENT   23 ( 7 )   580 - 583   2001.11

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    DOI： 10.1016/S0387-7604(01)00273-X

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  • Clinical spectrum of epileptic spasms associated with cortical malformation Reviewed

    K Kobayashi, Y Ohtsuka, S Ohno, Ohmori, I, T Ogino, H Yoshinaga, A Tanaka, Y Hiraki, E Oka

    NEUROPEDIATRICS   32 ( 5 )   236 - 244   2001.10

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    DOI： 10.1055/s-2001-19117

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  • Analysis of ictal EEGs of epilepsy associated with tuberous sclerosis Reviewed

    Ohmori, I, Y Ohtsuka, S Ohno, E Oka

    EPILEPSIA   39 ( 12 )   1277 - 1283   1998.12

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    DOI： 10.1111/j.1528-1157.1998.tb01325.x

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  • Long-term follow-up of childhood epilepsy associated with tuberous sclerosis Reviewed

    Y Ohtsuka, Ohmori, I, E Oka

    EPILEPSIA   39 ( 11 )   1158 - 1163   1998.11

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  • Electroclinical study of localization-related epilepsies in early infancy Reviewed

    Ohmori, I, Y Ohtsuka, E Oka, T Akiyama, S Ohtahara

    PEDIATRIC NEUROLOGY   16 ( 2 )   131 - 136   1997.2

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    DOI： 10.1016/S0887-8994(96)00296-2

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  • Estimation of obscure ictal epileptic activity in scalp EEG Reviewed

    Katsuhiro Kobayashi, Tomoyuki Nakahori, Iori Ohmori, Harumi Yoshinaga, Yoko Otsuka, Eiji Oka, Shunsuke Ohtahara

    Brain Topography   9 ( 2 )   125 - 134   1996

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    DOI： 10.1007/BF01200712

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▼display all

Books

  • てんかん，神経変性症および慢性腎臓病モデル動物としてのTxn1遺伝子変異ラットの樹立

    大守伊織, 大内田守, 真下知士, 豊國伸哉

    株式会社医学書院  2024.10 

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MISC

  • 上を向いて歩こう

    大守(川﨑)伊織

    脳と発達   56 ( 1 )   2024.1

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  • Necessity of ICT utilization in genome education: an analysis based on a questionnaire survey of university students

    十川麗美, 野田夕月奈, 鶴田智彦, 花岡有為子, 平沢晃, 隈元謙介, 大守伊織

    日本遺伝カウンセリング学会誌   45 ( 2 )   2024

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  • 最先端医療の今 教育学部を中心とした学生教育に対するゲノム医療リテラシー向上の取り組み

    十川 麗美, 野田 夕月奈, 隈元 謙介, 平沢 晃, 大守 伊織

    Medical Science Digest   49 ( 13 )   722 - 723   2023.12

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  • マイクロアレイ染色体検査にてCharcot-Marie-Tooth病責任領域の重複が認められたMiller-Dieker症候群の遺伝カウンセリング

    十川 麗美, 秋山 倫之, 衛藤 英理子, 二川 摩周, 加藤 芙美乃, 山本 英喜, 平沢 晃, 大守 伊織, 小林 勝弘

    脳と発達   55 ( Suppl. )   S302 - S302   2023.5

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  • Questionnaire survey on information transfer during disasters and emergencies among the hearing impaired

    Questionnaire survey on information, ransfer during disasters, emergencies among the hearing impaired

    27   398 - 398   2023.4

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  • Challenges in communicating information during disasters and emergencies for the hearing impaired

    Japanese Journal of Disaster Medicine 27(Suppl.2)   27   330 - 330   2023.4

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  • てんかん発作と関連するラットチオレドキシン変異体の結晶構造 Reviewed

    馬場匠望, 大内田守, 大守伊織, 上野剛, 山本雅貴, 竹下浩平

    日本蛋白質科学会年会プログラム・要旨集   23rd (CD-ROM)   2023

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  • Cacnala遺伝子変異/Scnla遺伝子変異ラットにおける欠神発作のビデオ脳波解析(Video-EEG analysis of absence seizures in Cacnala/Scnla double mutant rats)

    大守 伊織, 小林 聖佳, 大内田 守

    てんかん研究   40 ( 2 )   421 - 421   2022.8

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  • Video-EEG analysis of absence seizures in Cacna1a/Scn1a double mutant rats

    大守伊織, 小林聖佳, 大内田守

    てんかん研究   40 ( 2 )   2022

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  • ジェンダー、ヒエラルキー、思い込みから自由になる

    大守 伊織

    てんかん研究   39 ( 2 )   251 - 251   2021.7

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  • ADHD患児および保護者の服薬アドヒアランス

    大守 伊織, 南 恭子, 大野 繁, 岡 牧郎

    脳と発達   53 ( Suppl. )   S221 - S221   2021.5

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  • てんかんモデルラットにおける母子間の行動異常

    大守 伊織

    脳と発達   52 ( Suppl. )   S244 - S244   2020.8

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  • Cacna1a遺伝子変異はScn1a遺伝子変異ラットの表現型を変化させる

    大守伊織, 大内田守, 小林聖佳, 大守伊織

    日本人類遺伝学会大会プログラム・抄録集   65th (CD-ROM)   2020

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  • 代謝性アルカローシス時にてんかん発射の増加した2症例

    三宅 進, 杉田 真喜雄, 板村 真司, 津田 玲子, 岡崎 富男, 大守 伊織

    広島医学   72 ( 11 )   496 - 496   2019.11

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  • Txn1遺伝子変異ラットのてんかんの表現型

    大守 伊織, 真下 知士, 大内田 守, 豊國 伸哉

    てんかん研究   37 ( 2 )   647 - 647   2019.9

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  • ミオクローヌス・ジストニア(DYT11ジストニア)の1例

    濱田 朋弥, 細川 卓利, 齊藤 志穂, 石原 正行, 古谷 博和, 大内田 守, 大守 伊織, 阿部 エリカ, 豊島 至, 熊田 聡子, 浜田 文彦, 藤枝 幹也

    脳と発達   51 ( Suppl. )   S259 - S259   2019.5

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  • Txn1遺伝子ミスセンス変異をもつ新規CKDモデルラット

    大守 伊織, 真下 知士, 大内田 守, 豊國 伸哉

    日本腎臓学会誌   61 ( 3 )   399 - 399   2019.5

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  • SCN1A遺伝子変異とてんかん原性 Dravet症候群とGEFS+の病態解明にむけて GEFS+モデルラットの分子病態基盤と臨床応用(Molecular basis of a rat model of GEFS+ and a clinical application)

    大守 伊織

    てんかん研究   35 ( 2 )   372 - 372   2017.9

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  • 研究計画書に記載すべき事項に関する質問紙調査

    山中 真由美, 小杉 眞司, 大守 伊織, 岩江 荘介, 富田 博子, 矢野 郁, 高 秀子, 中正 朱美, 山本 陽子, 安藤 直子, 京都大学大学院医学研究科・医学部医の倫理委員会

    臨床薬理   45 ( Suppl. )   S314 - S314   2014.11

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  • ホウ素中性子捕捉療法に用いるPETイメージング可能なBSH-ペプチドの合成

    井口佳哉, 道上宏之, 北松瑞生, 大守伊織, 西木禎一, 松井秀樹

    日本化学会講演予稿集   94th ( 3 )   2014

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  • THE GENERATIVE PROCESS OF EPILEPTIC HIGH-FREQUENCY OSCILLATIONS AS SHOWN THROUGH NEURONAL NETWORK SIMULATION OF THE RAT DENTATE GYRUS

    K. Kobayashi, T. Akiyama, Ohmori, I, T. Inoue, H. Yoshinaga

    EPILEPSIA   54   46 - 46   2013.6

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  • CACNA1A VARIANTS AS A POTENTIAL GENETIC MODIFIER OF DRAVET SYNDROME

    Ohmori, I, M. Ouchida, K. Kobayashi, Y. Ohtsuka, H. Matsui

    EPILEPSIA   54   195 - 196   2013.6

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  • INHALATION OF CO2 SHOWS A POTENT AND FAST-ACTING ANTICONVULSANT EFFECT AGAINST SCN1A MUTATION-RELATED HYPERTHERMIA-INDUCED SEIZURES

    Ohmori, I, K. Hayashi, H. Wang, M. Ouchida, H. Matsui

    EPILEPSIA   54   49 - 49   2013.6

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  • Development of Tumor Specific Killing eGFP Peptide gainst Malignant Brain Tumor

    Miroyuki Michiue, Shiori Akada, Hideki Matsui, Tei-ichi Nishiki, Iori Ohmori, Akimasa Yamaguchi, Mizuki Kitamatsu

    BIOPOLYMERS   100 ( 3 )   255 - 255   2013.5

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  • オキシトシンの抗うつ作用に関わるマウス海馬神経細胞内シグナル伝達経路

    松崎 光博, 松下 博昭, 韓 小建, 沖本 直輝, 道上 宏之, 西木 禎一, 大守 伊織, 富澤 一仁, 松井 秀樹

    日本生理学雑誌   74 ( 2 )   46 - 46   2012.3

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  • 神経伝達物質放出を司るSNARE複合体からのCa2+センサーシナプトタグミンの解離

    鈴木孝一朗, 増本年男, 大守伊織, 道上宏之, 西木禎一, 松井秀樹

    日本生理学雑誌   74 ( 2 )   2012

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  • 急性脳症における遺伝性けいれん素因とSCN1A遺伝子変異

    大守 伊織, 小林 勝弘, 大内田 守, 奥村 彰久, 前垣 義弘, 西山 逸子, 大塚 頌子

    脳と発達   43 ( Suppl. )   S352 - S352   2011.5

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  • The neuroprotective effects of GDNF-pretreatment for neural stem cell transplantation in the 6-OHDA-lesioned rats

    Feifei Wang, Hiroyuki Michiue, Masahiro Kameda, Teiichi Nishiki, Iori Ohmori, Isao Date, Hideki Matsui

    NEUROSCIENCE RESEARCH   71   E137 - E138   2011

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  • Ca2+-dependent dissociation of synaptotagmin I from SNARE complexes

    Koichiro Suzuki, Toshio Masumoto, Iori Ohmori, Hiroyuki Michiue, Tei-ichi Nishiki, Hideki Matsui

    NEUROSCIENCE RESEARCH   71   E314 - E314   2011

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  • Electrophysiological properties of variant voltage-gated calcium channels in patients with epilepsy

    Iori Ohmori, Mamoru Ouchida, Haijiao Wang, Yuichiro Kitagawa, Hiroyuki Michiue, Teiichi Nishiki, Hideki Matsui

    NEUROSCIENCE RESEARCH   71   E294 - E294   2011

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  • Sildenafil exerts oxytocin-receptor-mediated antidepressant effects in male mice via a pathway involving MAP kinase and CREB phosphorylation in hippocampus

    Mitsuhiro Matsuzaki, Hiroaki Matsushita, Xiao-Jian Han, Tei-ichi Nishiki, Iori Ohmori, Kazuhito Tomizawa, Hideki Matsui

    NEUROSCIENCE RESEARCH   71   E302 - E302   2011

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    DOI： 10.1016/j.neures.2011.07.1317

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  • Metabolic and respiratory acidosis suppresses absence seizures in Cacna1a mutant rats

    Mamoru Ouchida, Yuko Kaida, Iori Ohmori, Takashi Uehara, Hideki Matsui

    NEUROSCIENCE RESEARCH   71   E296 - E296   2011

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  • オキシトシンはマウスでの交尾行動ならびにシルデナフィルによる抗うつ効果に関与する(Oxytocin mediates antidepressant effect by mating behavior and sildenafil in mice)

    松下 博昭, 松崎 光博, 富澤 一仁, 沖本 直輝, 西木 禎一, 大守 伊織, 松井 秀樹

    神経化学   49 ( 2-3 )   675 - 675   2010.8

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  • 神経伝達物質放出に関わるシナプトタグミン1とSNARE複合体の結合部位の同定

    西木 禎一, 増本 年男, 大守 伊織, 富澤 一仁, 松井 秀樹

    日本生理学雑誌   72 ( 4 )   131 - 132   2010.4

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  • オキシトシンは雄マウスでの交尾行動ならびにシルデナフィルによる抗うつ効果に関与する

    松下 博昭, 富澤 一仁, 沖本 直輝, 西木 禎一, 大守 伊織, Bosch O, Neumann ID, 松井 秀樹

    日本生理学雑誌   72 ( 4 )   132 - 132   2010.4

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  • Ca2+-dependent dissociation of syntaxin 1 from synaptotagmin 1

    Toshio Masumoto, Telichi Nishiki, Iori Ohmori, Kazuhito Tomizawa, Hideki Matsui

    JOURNAL OF PHYSIOLOGICAL SCIENCES   60   S127 - S127   2010

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  • Assembly and disassembly of the complex of synaptotagmin 1 and syntaxin 1 under physiological conditions

    Toshio Masumoto, Tei-ichi Nishiki, Iori Ohmori, Hideki Matsui

    NEUROSCIENCE RESEARCH   68   E228 - E228   2010

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    DOI： 10.1016/j.neures.2010.07.1007

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  • A CACNB4 mutation shows altered Cav2.1 function in a patient with Dravet syndrome

    大守伊織, 大内田守, 御牧信義, 西木禎一, 富澤一仁, 松井秀樹

    岡山医学会雑誌   121 ( 3 )   149 - 156   2010

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  • ナトリウムチャネル遺伝子Scn1a変異ラットの開発解析研究

    芹川忠夫, 大守伊織, 大内田守, 大野行弘, 鶴見東志子, 三木崇史, 若森実, 石原靜, 吉田卓史, 滝沢明子, 加藤めぐみ, 平林真澄, 笹征史, 森泰生, 真下知士

    てんかん治療研究振興財団研究年報   21   29 - 36   2010

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  • Oxytocin mediates antidepressant effect by mating behavior and sildenafil in mice

    Hiroaki Matsushita, Mitsuhiro Matsuzaki, Kazuhito Tomizawa, Naoki Okimoto, Tei-ich Nishiki, Iori Ohmori, Hideki Matsui

    NEUROSCIENCE RESEARCH   68   E315 - E315   2010

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    DOI： 10.1016/j.neures.2010.07.1398

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  • Effects of antiepileptic drugs on febrile seizures in Scnl a mutant rats

    Keiichiro Hayashi, Iori Ohmori, Teiichi Nishiki, Tomoji Mashimo, Tadao Serikawa, Hideki Matsui

    JOURNAL OF PHYSIOLOGICAL SCIENCES   60   S203 - S203   2010

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  • Dravet症候群患者に認められたカルシウムチャネル機能異常を引き起こすCACNB4遺伝子変異

    大守 伊織, 大内田 守, 御牧 信義, 西木 禎一, 富澤 一仁, 松井 秀樹

    岡山医学会雑誌   121 ( 3 )   149 - 156   2009.12

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  • オキシトシンによる不安情動作用機構の解明

    沖本 直輝, 大森 正泰, 西木 禎一, 大守 伊織, 平松 祐司, 松井 秀樹, 富澤 一仁

    日本生理学雑誌   71 ( 3 )   153 - 153   2009.3

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  • A CONSTITUTIVELY ACTIVE CALCINEURIN ENCODED BY AN INTRON-RETAINING MESSENGER RNA IS REQUIRED FOR HAIR FOLLICLE DEVELOPMENT

    Atsushi Fujimura, Kazuhito Tomizawa, Hiroyuki Michiue, Tei-ichi Nishiki, Iori Ohmori, Hideki Matsui

    JOURNAL OF PHYSIOLOGICAL SCIENCES   59   244 - 244   2009

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  • MOLECULAR MECHANISM OF THE REGULATION OF ANTI-ANXIETY BY OXYTOCIN

    Naoki Okimoto, Kazuhito Tomizawa, Teiichi Nishiki, Iori Ohmori, Hideki Matsui

    JOURNAL OF PHYSIOLOGICAL SCIENCES   59   280 - 280   2009

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  • DELIVERY OF SODIUM BOROCAPTATE TO GLIOMA CELLS USING IMMUNOLIPOSOME CONJUGATED WITH ANTI-EGFR ANTIBODIES BY ZZ-HIS

    Bin Feng, Kazuhito Tomizawa, Hiroyuki Michiue, Xiao-Jian Han, Atsushi Fujimura, Iori Ohmori, Tei-ichi Nishiki, Hideki Matsui

    JOURNAL OF PHYSIOLOGICAL SCIENCES   59   441 - 441   2009

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  • MICE OVEREXPRESSING DOMINANT NEGATIVE Cdk5 IN THE PANCREATIC BETA CELLS SHOW THE DIABETES MELLITUS

    Yoshihiro Ohtani, Kazuhito Tomizawa, Toshio Ohshima, Hiroyuki Michiue, Teiichi Nishiki, Iori Ohmori, Hideki Matsui

    JOURNAL OF PHYSIOLOGICAL SCIENCES   59   532 - 532   2009

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  • Oxytocin mediates mating-induced antidepressant effect in male mice

    Hiroaki Matsushita, Kazuhito Tomizawa, Naoki Okimoto, Iori Ohmori, Tei-ichi Nishiki, Hideki Matsui

    NEUROSCIENCE RESEARCH   65   S254 - S254   2009

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    DOI： 10.1016/j.neures.2009.09.1444

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  • J-1 A screening test for the prediction of Dravet syndrome before one year of age(The 42^<nd> Congress of the Japan Epilepsy Society)

    Journal of the Japan Epilepsy Society   26 ( 2 )   260 - 260   2008.9

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  • 膵β細胞特異的ドミナントネガティブCdk5発現トランスジェニックマウスの作製

    大谷 理浩, 富澤 一仁, 大島 登志男, 西木 禎一, 大守 伊織, 御子柴 克彦, 松井 秀樹

    日本生理学雑誌   70 ( 2 )   73 - 74   2008.2

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  • カルシニューリンAβの恒常的活性体は発毛メカニズムに関与する

    藤村 篤史, 富澤 一仁, 西本 禎一, 大守 伊織, 松井 秀樹

    日本生理学雑誌   70 ( 2 )   74 - 74   2008.2

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  • Pharmacological effects of antiepileptic drugs on mutant Nav1.1 channels associated with epilepsy

    Iori Ohmori, Hiroaki Matsushita, Teiichi Nishiki, Kazuhito Tomizawa, Hideki Matsui

    NEUROSCIENCE RESEARCH   61   S128 - S128   2008

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  • J-2 Nonfunctional SCN 1 A Is Common in Severe Myoclonic Epilepsy of Infancy(The 41^<th> Congress of the Japan Epilepsy Society)

    KM Kahlig, TH Rhodes, DW Wang, AL Jr. George

    Journal of the Japan Epilepsy Society   25 ( 3 )   250 - 250   2007.9

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  • CaMKIを介したDrop1リン酸化によるミトコンドリア形態制御

    韓 小建, 松下 正之, 富澤 一仁, 西木 禎一, 大守 伊織, 松井 秀樹

    日本生理学雑誌   69 ( 3 )   126 - 126   2007.3

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  • 脳腫瘍を標的としたバイオナノカプセルの開発

    筒井 佑美, 富澤 一仁, 西木 禎一, 大守 伊織, 名木田 真奈, 妹尾 昌治, 松井 秀樹

    日本生理学雑誌   69 ( 3 )   125 - 125   2007.3

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  • SCN1A missense mutation associated with infantile partial epilepsy

    Iori Ohmori, Mamoru Ouchida, Katsuhiro Kobayashi, Yoko Ohtsuka, Kenji Shimizu, Teiichi Nishiki, Kazuhito Tomizawa, Hideki Matsui

    NEUROSCIENCE RESEARCH   58   S187 - S187   2007

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    DOI： 10.1016/j.neures.2007.06.824

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  • オキシトシンによるProtein kinase C発現制御

    藤田 梨嘉, 魏 范研, 富澤 一仁, 松下 正之, 大守 伊織, 松井 秀樹

    日本生理学雑誌   68 ( 5 )   183 - 183   2006.5

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  • Cdk5によるインスリン分泌制御機構

    魏 范研, 富澤 一仁, 佐伯 恭範, 松下 正之, 大守 伊織, 松井 秀樹

    日本生理学雑誌   68 ( 5 )   185 - 185   2006.5

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  • Pharmacological rescue of trafficking defective Nav1.1 channels

    Iori Ohmori, Teiichi Nishiki, Kazuhito Tomizawa, Hideki Matsui

    NEUROSCIENCE RESEARCH   55   S141 - S141   2006

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  • Calpain inhibits endocytosis by cleaving amphiphysin I

    Yumei Wu, Kazuhito Tomizawa, Shuang Liang, Iori Ohmori, Teiichi Nishiki, Kohji Takei, Hideki Matsui

    NEUROSCIENCE RESEARCH   55   S76 - S76   2006

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  • Relationship between absence seizures and GABA(A) receptor.

    M Ito, I Ohmori, T Nakahori, T Takata, H Yoshinaga, Y Ohtsuka

    EPILEPSIA   46   16 - 16   2005

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  • Intermittent Explosive Disorder after Epilepsy Surgery for Mesial Temporal Lobe Epilepsy

    和田健, 山田了士, 鈴木啓嗣, 黒田重利, 榎日出夫, 大守伊織, 真柳佳昭

    精神医学   46 ( 9 )   947 - 953   2004.9

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  • MECP2 mutations in 217 patients with RTT syndrome.

    Kondo, I, Ishihara, I, M Miyamoto, T Matsuishi, Y Yamashita, K Kuwajima, T Iwai, S Endo, M Sone, H Yamagata, Y Tabara, Ohmori, I, E Oka

    AMERICAN JOURNAL OF HUMAN GENETICS   73 ( 5 )   333 - 333   2003.11

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  • P-01 乳児重症ミオクロニーてんかんの中核群と辺縁群の関連

    大塚 頌子, 大守 伊織, 荻野 竜也, 小林 勝弘, 岡 〓次

    日本てんかん学会プログラム・予稿集   ( 37 )   149 - 149   2003.10

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  • 乳児重症ミオクロニーてんかんと遺伝子 (特集 てんかんの基礎と最近の話題)

    大守 伊織, 荻野 竜也, 大塚 頌子

    小児科診療   66 ( 10 )   1699 - 1704   2003.10

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  • I F9 Treatment of epilepsy with electrical status epilepticus during slow sleep and its related epilepsy

    Inutsuka Miki, Ootsuka Yoko, Kobayashi Katsuhiro, Ohmori Iori, Oka Eiji

    ( 36 )   150 - 150   2002.9

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  • IN B10 Paroxysmal movement disorder and severe myoclonic epilepsy in infancy :

    Ohtsuka Yoko, Ohmori Iori, Ogino Tatsuya, Ouchida Mamotu, Shimizu Kenji, Oka Eiji

    ( 36 )   256 - 256   2002

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  • Mutation spectrum and genotype-phenotype correlation of MECP2 in 100 Japanese patients with Rett syndrome.

    T Fukuda, T Matsuichi, R Morishita, Y Yamashita, Ohmori, I, Horiuchi, I, K Kuwajima, H Nitta, H Yamagata, Kondo, I

    AMERICAN JOURNAL OF HUMAN GENETICS   69 ( 4 )   595 - 595   2001.10

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  • A-10 多小脳回に合併するてんかんの特徴

    大塚 頌子, 小林 勝弘, 太田 穂高, 大守 伊織, 榎 日出夫, 吉永 治美, 岡 〓次

    日本てんかん学会プログラム・予稿集   ( 34 )   95 - 95   2000.9

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  • B-13 複雑部分発作の発作時脳波の有用性と限界

    吉永 治美, 大守 伊織, 浅野 孝, 秋山 倫之, 岡 〓次

    日本てんかん学会プログラム・予稿集   ( 34 )   116 - 116   2000.9

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  • てんかん外科手術後に著明な衝動性こう進を呈した側頭葉てんかんの2例

    和田健, 山田了士, 河本俊彦, 鈴木啓嗣, 黒田重利, 榎日出夫, 大守伊織

    てんかん研究   18 ( 1 )   49   2000.2

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  • 閉眼過敏および図形過敏反応出現時の鳥距溝動脈血流速度

    眞田 敏, 大守伊織, 太田穂高, 寺崎智行

    臨床脳波   42 ( 1 )   61 - 64   2000

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  • Clinical applications and the effect of mexiletine on refractory epilepsies

    H. Enoki, H. Hata, I. Ohmori, S. Maniwa, H. Ohta, K. Kobayashi

    No To Hattatsu   32 ( 1 )   29 - 34   2000

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  • B-22 てんかん外科手術後に著名な衝動性亢進を呈した側頭葉てんかんの2例

    和田 健, 山田 了士, 河本 俊彦, 鈴木 啓嗣, 黒田 重利, 榎 日出夫, 大守 伊織

    日本てんかん学会プログラム・予稿集   ( 33 )   130 - 130   1999.10

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  • E-24 乳児重症ミオクロニーてんかんの発作時脳波分析

    大守 伊織, 大塚 頌子, 村上 暢子, 浅野 孝, 服部 旬里, 岡 〓次

    日本てんかん学会プログラム・予稿集   ( 33 )   189 - 189   1999.10

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  • Epilepsy with subcontinuous spike-waves during sleep and focal cortical dysplasia.

    Y Ohtsuka, T Asano, Ohmori, I, K Kobayashi, H Yoshinaga, E Oka

    EPILEPSIA   40   233 - 234   1999

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  • Relationship between cortical tubers and clinical features in patients with tuberous sclerosis.

    Ohmori, I, Y Ohtsuka, T Asano, E Oka, A Tanaka, S Hiraki

    EPILEPSIA   40   229 - 229   1999

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  • B-20 難治てんかんに対するロフラゼプ酸エチルの効果

    村上 暢子, 吉永 治美, 大守 伊織, 小川 和則, 浅野 孝, 岡 〓次

    日本てんかん学会プログラム・予稿集   ( 32 )   123 - 123   1998.10

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  • Angelman症候群における誘発電位について

    眞田 敏, 小川 和則, 大守 伊織, 荻野 竜也, 石田 喬士

    研究集録   108   37 - 40   1998.7

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  • An electroclinical study of localization-related epilepsies occurring before 6 months of age

    OHMORI Iori

    107 ( 7 )   99 - 109   1995.8

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  • SEIZURES IN SERIES OBSERVED IN SYMPTOMATIC GENERALIZED EPILEPSY OTHER THAN WEST SYNDROME

    M MIZUKAWA, OHMORI, I, Y OHTSUKA, E OKA, S OHTAHARA

    EPILEPSIA   36   S202 - S202   1995

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    Web of Science

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  • B-26 意識混濁を続発するミオクロニー発作

    大塚 頌子, 村嶋 逸子, 村上 暢子, 大守 伊織, 水口 栄太, 岡 〓次

    日本てんかん学会プログラム・予稿集   ( 29 )   118 - 118   1995

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    Language：Japanese   Publisher：日本てんかん学会  

    CiNii Article

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  • 2C-12 生後6ヶ月未満発症の小児てんかんの特異性

    大守 伊織, 村嶋 逸子, 吉永 治美, 大塚 頌子, 大田原 俊輔

    日本てんかん学会プログラム・予稿集   ( 27 )   185 - 185   1993.10

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    Language：Japanese   Publisher：日本てんかん学会  

    CiNii Article

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Presentations

  • Pathophysiological basis of chronic kidney disease due to Txn1 mutation

    2025.3.19 

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    Event date： 2025.3.17 - 2025.3.19

    Language：English   Presentation type：Poster presentation  

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  • 酸化ストレス障害による神経変性と修復過程におけるグリア細胞の役割

    大守伊織

    第66回日本小児神経学会学術集会  2024.5.30 

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    Event date： 2024.5.29 - 2024.6.1

    Language：Japanese   Presentation type：Symposium, workshop panel (nominated)  

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  • Txn1遺伝子変異ラットにおける慢性腎臓病は、ミトコンドリア異常と複数の細胞死パスウェイが関与する

    大守伊織、大内田 守、秦 昌紫子、内田 治仁、豊國 伸哉、真下 知士

    第34回腎とフリーラジカル研究会  2023.11.11 

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    Event date： 2023.11.11

    Language：Japanese   Presentation type：Oral presentation (general)  

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  • 聴覚障害者における災害時・緊急時の情報伝達に関するアンケート調査

    野田夕月奈, 大守伊織, 牧尉太, 片岡祐子

    第28回日本災害医学会総会・学術集会  2023.3 

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    Event date： 2023.3.9 - 2023.3.11

    Language：Japanese   Presentation type：Poster presentation  

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  • A Txn1 missense mutation links to epilepsy with vacuolar degeneration

    Ohmori I, Ouchida M, Toyokuni S, Ishida S, Mashimo T

    39th Congress of the International Union of Physiological Sciences (IUPS)  2022.5.7 

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    Event date： 2022.5.7 - 2022.5.11

    Language：English   Presentation type：Poster presentation  

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  • RNA-seq analysis of neurodegeneration caused by hypofunction of thioredoxin

    2024.7.24 

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  • Loss of thioredoxin function confers cell death in neurons and oligodendrocytes

    2021.12.3 

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  • Discovery of an animal model of premature aging with chronic kidney disease

    2021.12 

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  • Cacna1a遺伝子変異はScn1a遺伝子変異ラットの表現型を変化させる

    大守伊織, 大内田守, 小林聖佳

    日本人類遺伝学会第65回大会  2020.11 

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  • Impairment of parenting behaviors in an epileptic rat with Cacna1a mutation

    2020.8 

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  • Txn1遺伝子ミスセンス変異をもつ新規CKDモデルラット

    大守伊織, 真下知士, 大内田守, 豊國伸哉

    日本腎臓病学会  2019.6.21 

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  • A novel model rat of chronic kidney disease International conference

    Ohmori I, Mashimo T, Ouchida M, Toyokuni S

    Federation of the Asian and Oceanian Physiological Societies  2019.3.28 

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    Language：English   Presentation type：Poster presentation  

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  • A novel Txn1 missense mutation damages multiple organs

    2018.5.17 

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    Language：Japanese   Presentation type：Poster presentation  

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  • GEFS+モデルラットの分子病態基盤と臨床応用 Invited

    大守伊織

    第51回日本てんかん学会学術集会  2017.11.5 

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    Language：Japanese   Presentation type：Symposium, workshop panel (nominated)  

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  • Approach from basic and molecular study “Electrophysiological study of hyperthermia-induced seizures in Scn1a mutant rats Invited

    Iori Oomori

    2017.3.29 

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    Language：English   Presentation type：Symposium, workshop panel (nominated)  

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Industrial property rights

  • 遺伝子改変非ヒトモデル動物

    大守 伊織, 大内田 守, 真下 知士

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    Applicant：真下 知士

    Application no：JP2018045008  Date applied：2018.12.6

    Publication no：WO2019-117022  Date published：2019620

    J-GLOBAL

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  • 遺伝子改変非ヒトモデル動物

    大守 伊織, 大内田 守, 真下 知士

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    Applicant：大守 伊織

    Application no：特願2019-514326  Date applied：2018.12.6

    Patent/Registration no：特許第6650649号  Date registered：2020.1.23 

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  • 抗てんかん薬

    大守 伊織, 大内田 守

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    Applicant：大守 伊織

    Application no：特願2018-188510  Date applied：2018.10.3

    Announcement no：特開2018-203782  Date announced：2018.12.27

    Patent/Registration no：特許第6587299号  Date registered：2019.9.20 

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  • 抗てんかん薬

    大守 伊織, 大内田 守

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    Applicant：大守 伊織

    Application no：特願2018-188510  Date applied：2018.10.3

    Announcement no：特開2018-203782  Date announced：2018.12.27

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  • てんかん波を伴う疾患治療剤

    大内田 守, 大守 伊織, 改田 祐子

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    Applicant：国立大学法人 岡山大学

    Application no：特願2015-154053  Date applied：2015.8.4

    Announcement no：特開2015-227365  Date announced：2015.12.17

    Patent/Registration no：特許第6158868号  Date registered：2017.6.16 

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  • てんかん波を伴う疾患治療剤

    大内田 守, 大守 伊織, 改田 祐子

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    Applicant：国立大学法人 岡山大学

    Application no：特願2015-154053  Date applied：2015.8.4

    Announcement no：特開2015-227365  Date announced：2015.12.17

    J-GLOBAL

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  • 抗てんかん薬

    大守伊織

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    Application no：特願2015-522706  Date applied：2014.5.28

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  • 抗てんかん薬

    大内田 守, 大守 伊織

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    Applicant：国立大学法人 岡山大学

    Application no：JP2014064120  Date applied：2014.5.28

    Publication no：WO2014-203696  Date published：20141224

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  • てんかん波を伴う疾患治療剤

    大守伊織

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    Application no：特願2012-525374  Date applied：2011.7.12

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  • てんかん波を伴う疾患治療剤

    大内田 守, 大守 伊織, 改田 祐子

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    Applicant：国立大学法人 岡山大学

    Application no：特願2012-525374  Date applied：2011.7.12

    Patent/Registration no：特許第5791604号  Date registered：2015.8.14 

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  • てんかん波を伴う疾患治療剤

    大内田 守, 大守 伊織, 改田 祐子

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    Applicant：国立大学法人 岡山大学

    Application no：JP2011065845  Date applied：2011.7.12

    Publication no：WO2012-011407  Date published：2012126

    J-GLOBAL

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  • Dravet症候群の発症可能性の判定方法およびその利用

    大守 伊織, 大内田 守

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    Applicant：国立大学法人 岡山大学

    Application no：特願2011-551907  Date applied：2011.1.27

    Patent/Registration no：特許第5846372号  Date registered：2015.12.4 

    J-GLOBAL

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  • Dravet症候群の発症可能性の判定方法およびその利用

    大守 伊織, 大内田 守

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    Applicant：国立大学法人 岡山大学

    Application no：JP2011051636  Date applied：2011.1.27

    Publication no：WO2011-093393  Date published：201184

    J-GLOBAL

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  • 脳炎または脳症の罹患リスク判定データの取得方法およびその利用、並びに熱性けいれんのてんかんへの移行リスク判定データの取得方法およびその利用

    大守 伊織, 大内田 守

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    Applicant：国立大学法人 岡山大学

    Application no：特願2008-274887  Date applied：2008.10.24

    Announcement no：特開2009-131247  Date announced：2009.6.18

    J-GLOBAL

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  • 小児てんかん患者における急性脳炎または急性脳症の罹患リスク判定データの取得方法およびその利用

    大守 伊織, 大内田 守

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    Applicant：国立大学法人 岡山大学

    Application no：特願2008-274887  Date applied：2008.10.24

    Announcement no：特開2009-131247  Date announced：2009.6.18

    Patent/Registration no：特許第5540343号  Date registered：2014.5.16 

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  • 急性脳炎または急性脳症の罹患リスク判定データの取得方法およびその利用

    大守 伊織, 大内田 守, 森 泰生, 清中 茂樹, 三木 崇史

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    Applicant：国立大学法人 岡山大学

    Application no：特願2007-288978  Date applied：2007.11.6

    Announcement no：特開2009-112251  Date announced：2009.5.28

    J-GLOBAL

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  • Dravet症候群の早期診断を可能にするためのデータを取得する方法及びその利用

    大守 伊織, 大内田 守, 大塚 頌子

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    Applicant：国立大学法人 岡山大学

    Application no：特願2007-007449  Date applied：2007.1.16

    Announcement no：特開2008-173193  Date announced：2008.7.31

    Patent/Registration no：特許第4461263号  Date registered：2010.2.26 

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Awards

  • 優秀演題賞

    2018.5   日本酸化ストレス学会  

    大守伊織

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  • Gold Poster賞

    2013.6   国際てんかん学会  

    大守伊織

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  • 新見賞

    2009.6   岡山医学会  

    大守伊織

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  • Juhn and Mary Wada奨励賞

    2007.11   日本てんかん学会  

    大守伊織

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  • てんかん治療研究振興財団研究褒賞

    2007.3  

    大守伊織、大内田守

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  • 学術奨励賞

    2000.2   岡山県医学会  

    大守伊織

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Research Projects

  • 多様性を尊重する社会の確立を目指した遺伝学リテラシーからの教育実践研究

    2023.04 - 2026.03

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    Authorship：Principal investigator 

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  • Multilayered Omics for Oxidative Stress Induced Neuronal Cell Death and Epileptogenesis

    Grant number：22K07914  2022.04 - 2025.03

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (C)  Grant-in-Aid for Scientific Research (C)

    大守 伊織, 大内田 守

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    Grant amount：\4160000 （ Direct expense: \3200000 、 Indirect expense：\960000 ）

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  • 抗腫瘍剤の開発

    2020.04 - 2022.03

    橋渡し研究推進戦略的プログラム 

    大内田守, 大守伊織

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  • Study of the pathogenesis of west syndrome using a new model rat

    Grant number：16H05354  2016.04 - 2020.03

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (B)

    Ouchida Mamoru

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    Grant amount：\17030000 （ Direct expense: \13100000 、 Indirect expense：\3930000 ）

    On the study of mutant rats established by ENU mutagenesis, we found a lineage of diseased rats with developmental and epileptic encephalopathy-like epilepsy. Epileptic seizures occurred during a limited period of 4 to 6 weeks of age. The brain lesions were recovered spontaneously. The causative gene found in the rats is a missense mutation of a gene that regulates oxidative stress by redox reaction. Our results suggested that there may be a critical period when the oxidative stress becomes particularly high in the local region of the brain during the developmental process of the brain. Mutant rats may have reduced ability to properly suppress the oxidative stress due to its low function of antioxidant activity, resulting in damage of the brain.

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  • Development of a animal model of acute encephalopathy and an antibody therapy

    Grant number：26670500  2014.04 - 2017.03

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Challenging Exploratory Research

    Ohmori Iori

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    Grant amount：\3250000 （ Direct expense: \2500000 、 Indirect expense：\750000 ）

    We tried to establish an animal model of acute encephalopathy with convulsive status epilepticus. We used Scn1a mutant rats because SCN1A mutations have been linked to hyperthermia-induced seizure susceptibility and acute encephalopathy with a prolonged seizure in human. We induced seizures with various conditions or by using drugs with a proinflammatory effect. Seizures are evoked in Scn1a mutant rats, however, they did not last more than 30 minutes which are often observed in acute encephalopathy in human. Various behavioral tests and pathological examinations of the brain were conducted after provoked seizures. They showed no cognitive impairment and motor disturbance. Pathological tests exhibited no brain edema nor inflammation.

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  • New approaches of treating developmental disorders in channelopathy

    Grant number：23659522  2011 - 2012

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Challenging Exploratory Research

    OHMORI Iori

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    Grant amount：\3510000 （ Direct expense: \2700000 、 Indirect expense：\810000 ）

    Neurodevelopmental disorders includes mental retardation, autism spectrum disorder, learning disability, and attention deficit hyperactivity disorder. Molecules that modulate synaptic homeostasis are considered to be important substrates of pathogenesis in these disorders. This project reveals that dysfunction of neuronal channels also leads to neurodevelopmental disorders. These neuropsychiatric phenotypes are not caused by secondary effects of epileptic seizures or antiepileptic drugs.

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  • Molecular basis of febrile seizure and new treatment

    Grant number：22591130  2010 - 2012

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

    INOUE Takushi, OHMORI Iori

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    Grant amount：\4420000 （ Direct expense: \3400000 、 Indirect expense：\1020000 ）

    The aim of this study was to assess the anticonvulsant effect of carbon dioxide (CO_2) on Scn1a mutation-related febrile seizures. We examined physiological changes in the blood gas levels after the induction of hyperthermia-induced seizures (HISs), which were associated with the Scn1a missense mutation. The Scn1a mutant rats demonstrated a higher HISs susceptibility associated with respiratory alkalosis than the WT rats. Inhalation of 10% CO_2 shortened the seizure duration. Blood gas analysis after the inhalation of 10% CO_2 demonstrated an elevated pCO_2 level and respiratory acidosis. Inhalation of 10% CO_2 demonstrated a potent and fast-acting anticonvulsant effect against HISs.

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  • Genetic modifiers of an intractable epilepsy with channel gene mutations

    Grant number：21390312  2009 - 2011

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (B)

    OMORI Iori, OUCHIDA Mamoru, MASHIMO Tomoji

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    Grant amount：\17160000 （ Direct expense: \13200000 、 Indirect expense：\3960000 ）

    Dravet syndrome is an intractable epileptic syndrome beginning in the first year of life. De novo mutations of SCN1A, which encode the Na_v1. 1 neuronal voltage-gated sodium channel, are considered the major cause of Dravet syndrome. In this study, we investigated genetic modifiers of this syndrome.
    We performed a mutational analysis of all coding exons of CACNA1A in 48 subjects with Dravet syndrome. Nine CACNA1A variants, including six novel ones, were detected in 21 of 48 subjects(43. 8%). The electrophysiological properties of four of the five novel Ca_v2. 1 variants exhibited biophysical changes consistent with gain-of-function.

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  • Molecular mechanism of loss-of-function SCN1A mutations associated with epilepsy

    Grant number：18591154  2006 - 2008

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

    OOMORI Iori, MATSUI Hideki, OUCHIDA Mamoru

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    Grant amount：\3850000 （ Direct expense: \3400000 、 Indirect expense：\450000 ）

    難治てんかんの一種である乳児重症ミオクロニーてんかんに認められる電位依存性ナトリウムチャネル・1サブユニット(Na_v1.1)をコードするSCN1A遺伝子変異をもとに、その機能喪失メカニズムを解明した。変異の種類により、蛋白は合成されているが細胞膜へ移行できない障害とチャネル蛋白は膜に移行してきているがナトリウムイオンを透過することができない障害があることが推測された。蛋白が細胞膜へ移行できないある種の変異については、抗てんかん薬によって膜への移行が促進されることが分かった。これらの知見は、てんかん患者の遺伝子情報から、効果の高い治療薬を選択するテーラーメイド治療の開発に資することができると思われる。

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  • 脳内ホルモンによる情動行動の調節とその分子機構

    Grant number：18020020  2006 - 2007

    日本学術振興会  科学研究費助成事業  特定領域研究

    松井 秀樹, 大守 伊織

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    Grant amount：\6200000 （ Direct expense: \6200000 ）

    研究目的
    オキシトシン受容体は海馬および扁挑体に豊富に存在し、これら領域における生理作用について注目されている。近年オキシトシンは妊娠・出産時に抗不安作用を有することが動物実験で明らかにされているが、その分子機構については不明である。本研究では、オキシトシンによる抗不安作用の分子メカニズムの解明をする。
    成果
    本研究により以下のことを明らかにした。
    1.オキシトシン添加神経培養細胞ならびに授乳中の母親マウスの脳よりmRNAを抽出し、DNA microarray法により、両者ともに発現が促進されている遺伝子を検索した。結果:両者において発現が増加している遺伝子として7個同定した。その中でもRegulator of G-rprotein signaling2 (Rgs2) の発現が最も促進していた。
    2.バージンマウスに4時聞の拘束ストレスを与え、同マウス扁桃体におけるRgs2 mRNAならびに蛋白質の発現をwestern blotting法、real time PCR法で検討した。結果:拘束1日目よりRgs2の発現が非拘束マウスと比較して有意に亢進していた。このRgs2の高い発現は拘束後1週間持続した。
    3.扁桃体を含む脳スライスにオキシトシンを潅流し、扁桃体におけるRgs2の発現をwestern blotting法にて検討した。結果:潅流30分後よりRgs2の発現が完進していた。
    4.産後授乳中母親マウスでは、バージンマウスと比較して産後3日後には著明なRgs2発現の亢進が見られた。一方産後授乳を行っていないマウスのRgs2発現は、授乳マウスと比較して明らかな発現減少が見られた。すなわち、授乳によりRgs2の発現が増加することを証明した。
    5.オキシトシン受容体のアンタゴニストをマウス扁桃体に注入し、その後拘講ストレスを与え、Rgs2の発現について検討した。結果:予備実験では、同アンタゴニストを注射したマウスでは、Rgs2の発現がコントロール群と比較して低下していた。
    6.以上より、マウスの妊娠・出産→オキシトシンの分泌増加→扁桃体におけるRgs2の発現が増加→抗不安作用という仮説を証明しつつある。

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  • Oxytocin regulates stress response and anxiety through functional modulation of amygdala

    Grant number：17300127  2005 - 2006

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (B)

    MATSUI Hideki, TOMIZAWA Kazuhito, OHMORI Iori, NISHIKI Teiichi

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    Grant amount：\15100000 （ Direct expense: \15100000 ）

    Oxytocin is a peptide hormone that causes uterine contraction and facilitates the delivery of the newborn, and stimulates the milk ejection during motherhood. Abundant oxytocin receptors also appear in central nervous system (CNS), especially in limbic system. Oxytocin is involved in the regulation of social behaviors, including maternal care, affiliation and social behaviors in CNS.
    Moreover, recent studies have shown that oxytocin has anti-anxietic effect during motherhood. However, the exact molecular mechanism is unclear.
    In the course of experiments under the Monbusho grant, we identified a crucial molecule involved in the regulation of anxiety by oxytocin. Oxytocin induced the expression of Regulator of G-protein Signaling2 (RGS2), which is known as a modulator of anxiety, in the amygdala slices of female mice. RGS2 expression in the amygdala of lactating mice was significantly higher than that of virgin mice. Moreover, the expression of RGS2 in virgin mice undergone restraint stress was facilitated compared with that of control mice. These data agree with our hypothesis that the brain hormone oxytocin controls anxiety and stress response by increase of RGS2 expression in amygdala neurons. We will further examine the molecular mechanism of anxiety control by oxytocin in amygdala.

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  • Early diagnosis and genetic analysis of severe myoclonic epilepsy in infancy

    Grant number：16591030  2004 - 2006

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

    OHTSUKA Yoko, OHMORI Iori

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    Grant amount：\3200000 （ Direct expense: \3200000 ）

    RESEARCH RESULTS
    In order to clarify basic mechanisms of severe myoclonic epilepsy in infancy (SMEI) and promote the early diagnosis of SMEI, we performed the following two studies.
    (1) Mutation screen and functional analysis for sodium channel alpha 1 subunit in SMEI Mutations were detected in 33 cases (80.5%) of 41 patients with SMEI. The detection rate of SCN1A mutation was 75% in typical SMEI (TSMEI) patients who had myoclonic seizures and/or atypical absences, and 84% in borderline SMEI (BSMEI) who have only segmental myoclonus. As regards functional analysis, R931C mutation exhibited a significant reduction of current density by whole-cell patch clamp. Green-fluorescence-protein fused R931C showed dominant intensity at the cell surface. These findings suggest the R931C mutation disables the ability to conduction.
    (2) Clinical and genetic study of children with a history of febrile seizures and/or hot water-induced seizures before one year of age
    Among 96 patients who experienced febrile seizures and/or hot water-induced seizures before one year of age, 46 patients were diagnosed as having SMEI and 50 patients were not. Twenty-two of the 50 patients with non-SMEI had only febrile seizures and/or hot water-induced seizures, and remaining 28 had also experienced afebrile seizures. The epileptic syndromes of 25 of these 28 patients were unable to be classified into a specific epileptic syndrome. These patients had similar clinical features to generalized epilepsy accompanied by febrile seizure (GEFS+) except for autosomal dominant inheritance. The other three patients consisted of two with benign childhood epilepsy with centrotemporal spike and one with GEFS+. SCN1A mutations were detected in six of the 50 patients (12%) with non-SMEI. All of these were misssense mutations. All patients with SCN1A mutations had afebrile seizures as well. The detection rate of mutation in these patients was 21.4% (6/28 patients). Detailed analyses of clinical features of the six patients with SCN1A mutations revealed that they had some common characteristics with SMEI: (1) seizures easily induced by fever and/or hot water, (2) history of status epilepticus, (3) association of complex partial seizures, (4) family history of seizures. All except one had hemiconvulsions. None of the six patients had mental retardation. These results indicate that patients with SCN1A mutations display wider variety of clinical features than previously thought.

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  • Functional Analysis of the mutated ion-channel gene in severe myoclonic epilepsy in infancy

    Grant number：15591110  2003 - 2004

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

    OUCHIDA Mamoru, OHMORI Iori

    　 More details

    Grant amount：\3500000 （ Direct expense: \3500000 ）

    Severe myoclonic epilepsy in infancy(SMEI) is a malignant infant-onset epileptic syndrome with febrile seizures. We analyzed the voltage-gated sodium channel α1-subunit (SCN1A) gene, β1-subunit (SCN1B) gene and γ-aminobutyric acid _A receptor γ2-subunit (GABRG2) gene in DNAs from peripheral blood cells of patients with SMEI and patients with other types of epilepsy. Mutations of the SCN1A gene were detected in 83% of the patients with SMEI, although none with other types of epilepsy. The mutations included deletion, insertion, missense and nonsense mutations. We could not find any mutations of the SCN1B and GABRG2 genes in all patients. Our data suggested that the SCN1A mutations were significantly correlated with SME (p<0.0001).
    We cloned the wild type SCN1A cDNA, made the mutant type cDNAs by PCR-based mutagenesis, and constructed the SCN1A cDNA expression plasmids with Lumio-tag at the C-terminal region. When the expression plasmids were transfected into human embryonic kidney 293 cells, we found that some kinds of mutant forms are localized on cell membrane. The result suggests that the mutant forms of SCN1A may function dominant-negatively in the presence of the wild type SCN1A on the cell membrane.
    We found two alternative isoforms of SCN1A mRNA in human brain tissues, when we were cloning the cDNA for the expression system. Our analyses revealed that the isoforms loss the gate region of ion-channel, and that many mutations we detected had occurred in the region of SCN1A. These results suggest that the alternative isoforms also may negatively function for wild type of sodium ion-channel, like as a kind of mutant form.

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