Faculty Profiles - OHMORI Iori

Papers - OHMORI Iori

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Adherence to Medication among Children with ADHD and their Parents

( 174 ) 9 - 14 2020

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

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

PubMed

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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

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

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

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

2019

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

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

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

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

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

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

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

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

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

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

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

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

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

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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