Updated on 2025/10/23

写真a

 
AKIYAMA Mari
 
Organization
Scheduled update Assistant Professor
Position
Assistant Professor
External link

Degree

  • 医学博士 ( 岡山大学大学院 )

Research Areas

  • Life Science / Neurology

Professional Memberships

 

Papers

  • A retrospective study on post-operative recovery of daily living activity after total corpus callosotomy. Reviewed International journal

    Hiroki Tsuchiya, Takashi Shibata, Tatsuya Sasaki, Mari Akiyama, Tomoyuki Akiyama, Katsuhiro Kobayashi

    Brain & development   2024.9

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

    INTRODUCTION: Post-operative complications of corpus callosotomy (CC) in children, prolonged hospitalization due to inactivity as acute disconnection syndrome is occasionally experienced. We aimed to clarify this issue and its risk factors with a hypothesis that electroencephalogram (EEG) findings as measures of functional lateralization may be among prognostic factors for post-operative recovery. MATERIALS AND METHODS: Twenty-three patients with childhood-onset drug-resistant epilepsy who underwent total CC between April 2017 and December 2023 were included in the study and they were divided into two groups based on the duration of post-operative hospitalization as an indicator of recovery of daily living activity. We compared scalp EEG findings and the other factors including clinical characteristics between the two groups. RESULTS: Of 22 patients (14 males) without specific complications, post-operative hospitalization clustered in 9-14 days in 15 patients (Group A) with range 16-118 days in seven patients (Group B). The ratios of patients with non-lateralized spikes on pre-operative EEG and that of patients with symmetric background activity on post-operative EEG were significantly greater in Group B (7/7, 100 %; 6/7, 86 %, respectively) than in Group A (8/15, 53 %; 4/15, 27 %, respectively) (p = 0.038; p = 0.020, respectively, by Fisher's exact test), while other factors were not significantly different between the two groups. CONCLUSIONS: Delayed recovery of living activity should be anticipated, especially in patients with non-lateralized epileptic discharges on pre-operative EEG.

    DOI： 10.1016/j.braindev.2024.09.006

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  • 全前脳胞症を合併した13番染色体長腕部分トリソミーの一例

    大野 友香子, 吉本 順子, 秋山 麻里, 鷲尾 洋介, 岡村 朋香, 渡邉 宏和, 森本 大作, 佐藤 剛史, 塚原 宏一, 小林 勝弘

    日本周産期・新生児医学会雑誌   60 ( 2 )   287 - 291   2024.9

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  • Modulation index predicts the effect of ethosuximide on developmental and epileptic encephalopathy with spike-and-wave activation in sleep. Reviewed International journal

    Takashi Shibata, Hiroki Tsuchiya, Mari Akiyama, Tomoyuki Akiyama, Katsuhiro Kobayashi

    Epilepsy research   202   107359 - 107359   2024.5

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    PURPOSE: In developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS), the thalamocortical network is suggested to play an important role in the pathophysiology of the progression from focal epilepsy to DEE-SWAS. Ethosuximide (ESM) exerts effects by blocking T-type calcium channels in thalamic neurons. With the thalamocortical network in mind, we studied the prediction of ESM effectiveness in DEE-SWAS treatment using phase-amplitude coupling (PAC) analysis. METHODS: We retrospectively enrolled children with DEE-SWAS who had an electroencephalogram (EEG) recorded between January 2009 and September 2022 and were prescribed ESM at Okayama University Hospital. Only patients whose EEG showed continuous spike-and-wave during sleep were included. We extracted 5-min non-rapid eye movement sleep stage N2 segments from EEG recorded before starting ESM. We calculated the modulation index (MI) as the measure of PAC in pair combination comprising one of two fast oscillation types (gamma, 40-80 Hz; ripples, 80-150 Hz) and one of five slow-wave bands (delta, 0.5-1, 1-2, 2-3, and 3-4 Hz; theta, 4-8 Hz), and compared it between ESM responders and non-responders. RESULTS: We identified 20 children with a diagnosis of DEE-SWAS who took ESM. Fifteen were ESM responders. Regarding gamma oscillations, significant differences were seen only in MI with 0.5-1 Hz slow waves in the frontal pole and occipital regions. Regarding ripples, ESM responders had significantly higher MI in coupling with all slow waves in the frontal pole region, 0.5-1, 3-4, and 4-8 Hz slow waves in the frontal region, 3-4 Hz slow waves in the parietal region, 0.5-1, 2-3, 3-4, and 4-8 Hz slow waves in the occipital region, and 3-4 Hz slow waves in the anterior-temporal region. SIGNIFICANCE: High MI in a wider area of the brain may represent the epileptic network mediated by the thalamus in DEE-SWAS and may be a predictor of ESM effectiveness.

    DOI： 10.1016/j.eplepsyres.2024.107359

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  • Exploration of urine metabolic biomarkers for new-onset, untreated pediatric epilepsy: A gas and liquid chromatography mass spectrometry-based metabolomics study. Reviewed International journal

    Tomoyuki Akiyama, Daisuke Saigusa, Takushi Inoue, Chiho Tokorodani, Mari Akiyama, Rie Michiue, Atsushi Mori, Eiji Hishinuma, Naomi Matsukawa, Takashi Shibata, Hiroki Tsuchiya, Katsuhiro Kobayashi

    Brain & development   2024.1

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    OBJECTIVE: The discovery of objective indicators for recent epileptic seizures will help confirm the diagnosis of epilepsy and evaluate therapeutic effects. Past studies had shortcomings such as the inclusion of patients under treatment and those with various etiologies that could confound the analysis results significantly. We aimed to minimize such confounding effects and to explore the small molecule biomarkers associated with the recent occurrence of epileptic seizures using urine metabolomics. METHODS: This is a multicenter prospective study. Subjects included pediatric patients aged 2 to 12 years old with new-onset, untreated epilepsy, who had had the last seizure within 1 month before urine collection. Controls included healthy children aged 2 to 12 years old. Those with underlying or chronic diseases, acute illnesses, or recent administration of medications or supplements were excluded. Targeted metabolome analysis of spot urine samples was conducted using gas chromatography (GC)- and liquid chromatography (LC)-tandem mass spectrometry (MS/MS). RESULTS: We enrolled 17 patients and 21 controls. Among 172 metabolites measured by GC/MS/MS and 41 metabolites measured by LC/MS/MS, only taurine was consistently reduced in the epilepsy group. This finding was subsequently confirmed by the absolute quantification of amino acids. No other metabolites were consistently altered between the two groups. CONCLUSIONS: Urine metabolome analysis, which covers a larger number of metabolites than conventional biochemistry analyses, found no consistently altered small molecule metabolites except for reduced taurine in epilepsy patients compared to healthy controls. Further studies with larger samples, subjects with different ages, expanded target metabolites, and the investigation of plasma samples are required.

    DOI： 10.1016/j.braindev.2023.12.004

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  • A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation. Reviewed International journal

    Mari Akiyama, Tomoyuki Akiyama, Hirotomo Saitsu, Yukie Tokioka, Rie Tsukahara, Hiroki Tsuchiya, Takashi Shibata, Katsuhiro Kobayashi

    Brain & development   45 ( 10 )   597 - 602   2023.8

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    BACKGROUND: MECP2 is a well-known causative gene for Rett syndrome but other phenotypes have also been reported. Here, we report a case of a female patient with adolescent-onset progressive myoclonus epilepsy (PME) carrying a novel truncating mutation in the MECP2 gene. CASE REPORT: The patient was a 29-year-old woman with infantile-onset intellectual disability of unspecified cause. She had demonstrated slow but steady development with moderate intellectual disability until the age of 16, when she started having epileptic seizures. Her epilepsy progressed intractably with multiple seizure types accompanied by myoclonus, tremor, and gradual regression. She is currently apathetic and requires extensive assistance in all aspects of life. After an extensive work-up for underlying diseases for PME turned out negative, whole-exome sequencing revealed a de novo 113-bp deletion and 3-bp insertion in MECP2, a variant of NM_004992.4:c.1099_1211delinsGGG, p.(His367Glyfs*32). CONCLUSIONS: The clinical presentation of this case was inconsistent with Rett syndrome, and the rapid regression in the patient's twenties was considered characteristic. Mutations of MECP2 may result in variable neurodevelopmental phenotypes and may also be considered a causative gene for adolescent-onset PME.

    DOI： 10.1016/j.braindev.2023.07.006

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  • Epilepsy in Children With Congenital Heart Disease: Risk Factors and Characteristic Presentations. Reviewed International journal

    Takashi Shibata, Maiko Kondo, Yosuke Fukushima, Mari Akiyama, Tomoyuki Akiyama, Teruko Morooka, Kenji Baba, Shinichi Ohtsuki, Hirokazu Tsukahara, Shingo Kasahara, Katsuhiro Kobayashi

    Pediatric neurology   147   28 - 35   2023.7

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    BACKGROUND: Children with a congenital heart disease (CHD) are at a higher risk of developing epilepsy than the general population, but detailed characteristics of CHD-associated epilepsy have not been clarified. The purposes of this study were to determine the risk factors for developing epilepsy associated with CHD and to elucidate the characteristics of such epilepsy. METHODS: We performed a retrospective cohort study based on medical records of pediatric patients with CHD who were born between January 2006 and December 2016, underwent cardiac surgery at Okayama University Hospital, and were followed up until at least age three years. Multivariate logistic regression analysis was used to determine factors particularly associated with epilepsy occurrence. In patients who developed epilepsy, clinical data on seizure characteristics were further investigated. RESULTS: We collected data from 1024 patients, and 41 (4.0%) developed epilepsy. The presence of underlying disease (odds ratio [OR]: 2.413; 95% confidence interval [CI]: 1.150 to 4.883) and the Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery score category 2 (OR: 4.373; 95% CI: 1.090 to 29.150) and category 5 (OR: 10.385; 95% CI: 1.717 to 89.016) were significantly related to epilepsy occurrence. Of the 41 patients with epilepsy, 15 (including nine with hypoplastic left heart syndrome) had focal impaired awareness seizures specified as autonomic seizures with vomiting, which tends to escape detection. CONCLUSIONS: We clarified the risk factors for developing epilepsy in children with CHD. We also found that autonomic seizure with vomiting is an important symptom in these children.

    DOI： 10.1016/j.pediatrneurol.2023.07.004

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  • 特徴的な脳波速波活動を認め臭化カリウムが有効であったGABRB3関連てんかんの1例 Reviewed

    品川 穣, 水野 むつみ, 秋山 麻里, 竹内 章人, 板井 俊幸, 宮武 聡子, 松本 直通, 加藤 光広, 小林 勝弘

    脳と発達   55 ( 3 )   212 - 216   2023.5

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  • Comprehensive study of metabolic changes induced by a ketogenic diet therapy using GC/MS- and LC/MS-based metabolomics Reviewed

    Mari Akiyama, Tomoyuki Akiyama, Daisuke Saigusa, Eiji Hishinuma, Naomi Matsukawa, Takashi Shibata, Hiroki Tsuchiya, Atsushi Mori, Yuji Fujii, Yukiko Mogami, Chiho Tokorodani, Kozue Kuwahara, Yurika Numata-Uematsu, Kenji Inoue, Katsuhiro Kobayashi

    Seizure   107   52 - 59   2023.4

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    Authorship：Lead author   Publishing type：Research paper (scientific journal)   Publisher：Elsevier BV  

    DOI： 10.1016/j.seizure.2023.03.014

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  • A study on the relationship between non-epileptic fast (40 - 200 Hz) oscillations in scalp EEG and development in children. Reviewed International journal

    Makio Oka, Katsuhiro Kobayashi, Takashi Shibata, Hiroki Tsuchiya, Yoshiyuki Hanaoka, Mari Akiyama, Teruko Morooka, Masao Matsuhashi, Tomoyuki Akiyama

    Brain & development   43 ( 9 )   904 - 911   2021.5

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    OBJECTIVE: Physiological gamma and ripple activities may be linked to neurocognitive functions. This study investigated the relationship between development and non-epileptic, probably physiological, fast (40-200 Hz) oscillations (FOs) including gamma (40 - 80 Hz) and ripple (80 - 200 Hz) oscillations in scalp EEG in children with neurodevelopmental disorders. METHODS: Participants were 124 children with autism spectrum disorder (ASD) and/or attention deficit/hyperactivity disorder (ADHD). Gamma and ripple oscillations were explored from 60-second-long sleep EEG data in each subject using a semi-automatic detection tool supplemented with visual confirmation and time-frequency analysis. RESULTS: Gamma and ripple oscillations were detected in 25 (20.2%) and 22 (17.7%) children, respectively. The observation of one or more occurrence(s) of ripple oscillations, but not gamma oscillations, was significantly related to lower age at EEG recording (odds ratio, OR: 0.727 [95% confidence interval, CI: 0.568-0.929]), higher intelligence/developmental quotient (OR: 1.041, 95% CI: 1.002-1.082), and lack of a diagnosis with ADHD (OR: 0.191, 95% CI: 0.039 - 0.937) according to a binominal logistic regression analysis that included diagnosis with ASD, sex, history of perinatal complications, history of febrile seizures, and use of a sedative agent for the EEG recording as the other non-significant parameters. Diagnostic group was not related to frequency or power of spectral peaks of FOs. CONCLUSION: The production of non-epileptic scalp ripples was confirmed to be associated with brain development and function/dysfunction in childhood. Further investigation is necessary to interpret all of the information on higher brain functions that may be embedded in scalp FOs.

    DOI： 10.1016/j.braindev.2021.05.004

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  • A case of dramatic improvement of lennox―gastaut syndrome in both seizures and aggressive behaviors by perampanel Reviewed

    Naoko Maura, Fumika Endoh, Mari Akiyama, Yoshiyuki Hanaoka, Tomoyuki Akiyama, Katsuhiro Kobayashi

    Journal of the Japan Epilepsy Society   38 ( 1 )   36 - 42   2020.7

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    Language：Japanese   Publishing type：Research paper (scientific journal)   Publisher：Japan Epilepsy Society  

    DOI： 10.3805/JJES.38.36

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  • Laboratory changes during ACTH therapy associated with renal calcified lesions. Reviewed International journal

    Hiroyuki Miyahara, Tomoyuki Akiyama, Kosei Hasegawa, Mari Akiyama, Makio Oka, Katsuhiro Kobayashi, Hirokazu Tsukahara

    Pediatrics international : official journal of the Japan Pediatric Society   62 ( 5 )   587 - 592   2020.1

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    BACKGROUND: Renal calcified lesions are known as one of the complications during adrenocorticotropic hormone (ACTH) therapy for intractable epilepsy. However, laboratory changes during the therapy or laboratory features of high-risk cases with renal calcified lesions are yet to be clarified. METHODS: In this study, 43 patients with West syndrome ≤2 years were included. We retrospectively reviewed age and body mass index at the beginning of ACTH therapy, as well as the amount of fluid intake, daily urinary volume, and laboratory data during therapy. In addition, we studied the urinary sediment of the cases with renal calcified lesions diagnosed by computed tomography. RESULTS: After initiating ACTH treatment, urinary calcium (Ca)/creatinine ratio and urinary pH increased within 2 weeks. Urinary crystals and renal tubular epithelial cells (RTECs) in urinary sediment were frequently found in most cases. Urinary Ca levels, proteinuria or frequency of urinary crystals, and number of RTECs in the urinary sediment were significantly higher in patients with epithelial casts (ECs) or hematuria than in patients without these findings. Among the 7 patients who underwent abdominal CT, ECs or hematuria were found only those with renal calcified lesions. These findings suggested that patients with ECs or hematuria were more likely to have calcified lesions. CONCLUSIONS: The risk of renal calcified lesions increases after 2 weeks of ACTH treatment. Abnormal findings in urinary sediments might be an early sign of renal calcification during ACTH therapy.

    DOI： 10.1111/ped.14158

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  • Detection of fast (40–150 Hz) oscillations from the ictal scalp EEG data of myoclonic seizures in pediatric patients Reviewed International journal

    Katsuhiro Kobayashi, Yuji Ohuchi, Takashi Shibata, Yoshiyuki Hanaoka, Mari Akiyama, Makio Oka, Fumika Endoh, Tomoyuki Akiyama

    Brain and Development   40 ( 5 )   397 - 405   2018.5

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    Language：English   Publishing type：Research paper (scientific journal)   Publisher：Elsevier B.V.  

    DOI： 10.1016/j.braindev.2018.01.004

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  • Pyridoxal 5'-phosphate, pyridoxal, and 4-pyridoxic acid in the paired serum and cerebrospinal fluid of children Reviewed International journal

    Tomoyuki Akiyama, Yumiko Hayashi, Yoshiyuki Hanaoka, Takashi Shibata, Mari Akiyama, Hiroki Tsuchiya, Tokito Yamaguchi, Katsuhiro Kobayashi

    CLINICA CHIMICA ACTA   472   118 - 122   2017.9

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    DOI： 10.1016/j.cca.2017.07.032

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  • Complex observation of scalp fast (40-150 Hz) oscillations in West syndrome and related disorders with structural brain pathology. Reviewed International journal

    Kobayashi K, Endoh F, Agari T, Akiyama T, Akiyama M, Hayashi Y, Shibata T, Hanaoka Y, Oka M, Yoshinaga H, Date I

    Epilepsia open   2 ( 2 )   260 - 266   2017.6

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    We investigated the relationship between the scalp distribution of fast (40-150 Hz) oscillations (FOs) and epileptogenic lesions in West syndrome (WS) and related disorders. Subjects were 9 pediatric patients with surgically confirmed structural epileptogenic pathology (age at initial electroencephalogram [EEG] recording: mean 7.1 months, range 1-22 months). The diagnosis was WS in 7 patients, Ohtahara syndrome in 1, and a transitional state from Ohtahara syndrome to WS in the other. In the scalp EEG data of these patients, we conservatively detected FOs, and then examined the distribution of FOs. In five patients, the scalp distribution of FOs was consistent and concordant with the lateralization of cerebral pathology. In another patient, FOs were consistently dominant over the healthy cerebral hemisphere, and the EEG was relatively low in amplitude over the pathological atrophic hemisphere. In the remaining 3 patients, the dominance of FOs was inconsistent and, in 2 of these patients, the epileptogenic hemisphere was reduced in volume, which may result from atrophy or hypoplasia. The correspondence between the scalp distribution of FOs and the epileptogenic lesion should be studied, taking the type of lesion into account. The factors affecting scalp FOs remain to be elucidated.

    DOI： 10.1002/epi4.12043

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  • Measurement of pyridoxal 5 '-phosphate, pyridoxal, and 4-pyridoxic acid in the cerebrospinal fluid of children Reviewed International journal

    Tomoyuki Akiyama, Mari Akiyama, Yumiko Hayashi, Takashi Shibata, Yoshiyuki Hanaoka, Soichiro Toda, Katsumi Imai, Shin-ichiro Hamano, Tohru Okanishi, Harumi Yoshinaga, Katsuhiro Kobayashi

    CLINICA CHIMICA ACTA   466   1 - 5   2017.3

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    DOI： 10.1016/j.cca.2016.12.027

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  • Simultaneous measurement of monoamine metabolites and 5-methyltetrahydrofolate in the cerebrospinal fluid of children. Reviewed International journal

    Akiyama Tomoyuki, Hayashi Yumiko, Hanaoka Yoshiyuki, Shibata Takashi, Akiyama Mari, Nakamura Kazuyuki, Tsuyusaki Yu, Kubota Masaya, Yoshinaga Harumi, Kobayashi Katsuhiro

    Clin Chim Acta   465   5 - 10   2017.2

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

    BACKGROUND: We describe a new method for simultaneous measurement of monoamine metabolites (3-O-methyldopa [3-OMD], 3-methoxy-4-hydroxyphenylethyleneglycol [MHPG], 5-hydroxyindoleacetic acid [5-HIAA], and homovanillic acid [HVA]) and 5-methyltetrahydrofolate (5-MTHF) and its use on cerebrospinal fluid (CSF) samples from pediatric patients. METHODS: Monoamine metabolites and 5-MTHF were measured by high-performance liquid chromatography with fluorescence detection. CSF samples were prospectively collected from children according to a standardized collection protocol in which the first 1-ml fraction was used for analysis. RESULTS: Monoamine metabolites and 5-MTHF were separated within 10min. They showed linearity from the limit of detection to 1024nmol/l. The limit of quantification of each metabolite was sufficiently low for the CSF sample assay. In 42 CSF samples after excluding cases with possibly altered neurotransmitter profiles, the concentrations of 3-OMD, MHPG, 5-HIAA, HVA, and 5-MTHF showed significant age dependence and their ranges were comparable with the reference values in the literature. The metabolite profiles of aromatic l-amino acid decarboxylase deficiency, Segaw

    DOI： 10.1016/j.cca.2016.12.005

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  • Simultaneous measurement of monoamine metabolites and 5-methyltetrahydrofolate in the cerebrospinal fluid of children Reviewed

    Tomoyuki Akiyama, Yumiko Hayashi, Yoshiyuki Hanaoka, Takashi Shibata, Mari Akiyama, Kazuyuki Nakamura, Yu Tsuyusaki, Masaya Kubota, Harumi Yoshinaga, Katsuhiro Kobayashi

    CLINICA CHIMICA ACTA   465   5 - 10   2017.2

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    DOI： 10.1016/j.cca.2016.12.005

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  • Importance of the multisystem follow-up in patients with tuberous sclerosis complex. Reviewed

    Yoshinaga H, Oka M, Akiyama T, Endoh F, Akiyama M, Hayashi Y, Shibata T, Hanaoka Y, Kobayashi K

    No to hattatsu = Brain and development   5-9 ( 1 )   5 - 9   2017.1

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    Language：Japanese   Publisher：The Japanese Society of Child Neurology  

    <p>  Objective: Tuberous sclerosis complex (TSC) is a multisystem disorder characterized by the formation of hamartoma in multiple organ systems of the body. However, without a well-established cooperative system involving related departments, some organ lesions might be overlooked until symptoms appear or even until the disorder progresses. Therefore, the purpose of this study is to investigate the current status of follow-ups in the TSC patients in the Department of Child Neurology at Okayama University Medical Hospital. Methods: We performed a retrospective chart review of 38 patients with TSC who visited our hospital at least twice between January 2005 and December 2014. Patients were between 3 years and 48 years of age at their latest visit. We divided the patients into a child group and an adult group, and investigated the patients' follow-up data while focusing on the various multiorgan systems. Results: The follow-ups were well conducted in the child group in terms of every organ. In the adult group, neuroimaging tests were unsatisfactorily performed. The kidney has not been examined in seven patients more than five years even though these patients all had kidney lesions. The lung was not been examined in 7 out of 14 female patients over 18 years of age who are most at risk for lymphangioleiomyomatosis (LAM). In 12 out of 18 child patients, echocardiograms were performed every few years, while electrocardiograms to assess underlying conduction defects were rarely performed in either age group. Conclusions: In Europe, guidelines for the management of TSC have been well established. However, in our hospital, the multiorgan system follow-up is not satisfactorily performed especially in adult patients. We decided the establishment of a TSC board in our hospital for the management of this multiorgan disorder.</p>

    DOI： 10.11251/ojjscn.49.5

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  • Significance of High-frequency Electrical Brain Activity Reviewed

    Katsuhiro Kobayashi, Tomoyuki Akiyama, Takashi Agari, Tatsuya Sasaki, Takashi Shibata, Yoshiyuki Hanaoka, Mari Akiyama, Fumika Endoh, Makio Oka, Isao Date

    ACTA MEDICA OKAYAMA   71 ( 3 )   191 - 200   2017

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    DOI： 10.18926/AMO/55201

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  • Determination of CSF 5-methyltetrahydrofolate in children and its application for defects of folate transport and metabolism Reviewed International journal

    Mari Akiyama, Tomoyuki Akiyama, Kaoruko Kanamaru, Mutsuko Kuribayashi, Hiroko Tada, Tsugumi Shiokawa, Soichiro Toda, Katsumi Imai, Yu Kobayashi, Jun Tohyama, Takafumi Sakakibara, Harumi Yoshinaga, Katsuhiro Kobayashi

    CLINICA CHIMICA ACTA   460   120 - 125   2016.9

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

    DOI： 10.1016/j.cca.2016.06.032

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  • Spatial relationship between fast and slow components of ictal activities and interictal epileptiform discharges in epileptic spasms Reviewed International journal

    Tomoyuki Akiyama, Mari Akiyama, Katsuhiro Kobayashi, Tohru Okanishi, Cyrus G. Boelman, Dragos A. Nita, Ayako Ochi, Cristina Y. Go, O. Carter Snead, James T. Rutka, James M. Drake, Sylvester Chuang, Hiroshi Otsubo

    CLINICAL NEUROPHYSIOLOGY   126 ( 9 )   1684 - 1691   2015.9

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    DOI： 10.1016/j.clinph.2014.12.005

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  • Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. Reviewed International journal

    Yamamoto T, Shimojima K, Shibata T, Akiyama M, Oka M, Akiyama T, Yoshinaga H, Kobayashi K

    Human genome variation   2   15048 - 15048   2015

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    Novel PLA2G6 mutations associated with p.Asp283Asn and a unique intragenic deletion of exons 4 and 5 due to non-allelic homologous recombination were identified in a Japanese female patient with typical infantile neuroaxonal dystrophy. The patient showed progressive tetraplegia beginning at 9 months. An electroencephalogram showed a diffuse increase in fast waves, and brain magnetic resonance imaging showed progressive brain atrophy and T2 hypointensity in the globus pallidus.

    DOI： 10.1038/hgv.2015.48

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  • Five pediatric cases of ictal fear with variable outcomes Reviewed International journal

    Mari Akiyama, Katsuhiro Kobayashi, Takushi Inoue, Tomoyuki Akiyama, Harumi Yoshinaga

    BRAIN & DEVELOPMENT   36 ( 9 )   758 - 763   2014.10

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

    DOI： 10.1016/j.braindev.2013.11.011

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  • Dravet Syndrome: A Genetic Epileptic Disorder Reviewed

    Mari Akiyama, Katsuhiro Kobayashi, Yoko Ohtsuka

    ACTA MEDICA OKAYAMA   66 ( 5 )   369 - 376   2012.10

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

    DOI： 10.18926/AMO/48961

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  • Amelioration of disabling myoclonus in a case of DRPLA by levetiracetam Reviewed International journal

    Katsuhiro Kobayashi, Akihito Takeuchi, Makio Oka, Mari Akiyama, Yoko Ohtsuka

    BRAIN & DEVELOPMENT   34 ( 5 )   368 - 371   2012.5

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    DOI： 10.1016/j.braindev.2011.07.013

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  • Histopathology of cortex and white matter in pediatric epileptic spasms: Comparison with those of partial seizures Reviewed International journal

    Yukiko Inage, William C. Halliday, Cristina Go, Ayako Ochi, Tomoyuki Akiyama, Mari Akiyama, Elysa Widjaja, Hiroshi Otsubo

    BRAIN & DEVELOPMENT   34 ( 2 )   118 - 123   2012.2

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    DOI： 10.1016/j.braindev.2011.03.009

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  • High kurtosis of intracranial electroencephalogram as a marker of ictogenicity in pediatric epilepsy surgery Reviewed International journal

    Tomoyuki Akiyama, Makoto Osada, Masahide Isowa, Cristina Y. Go, Ayako Ochi, Irene M. Elliott, Mari Akiyama, O. Carter Snead, James T. Rutka, James M. Drake, Hiroshi Otsubo

    CLINICAL NEUROPHYSIOLOGY   123 ( 1 )   93 - 99   2012.1

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

    DOI： 10.1016/j.clinph.2011.05.026

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  • Focal resection of fast ripples on extraoperative intracranial EEG improves seizure outcome in pediatric epilepsy Reviewed International journal

    Tomoyuki Akiyama, Blathnaid McCoy, Cristina Y. Go, Ayako Ochi, Irene M. Elliott, Mari Akiyama, Elizabeth J. Donner, Shelly K. Weiss, O. Carter Snead, James T. Rutka, James M. Drake, Hiroshi Otsubo

    EPILEPSIA   52 ( 10 )   1802 - 1811   2011.10

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

    DOI： 10.1111/j.1528-1167.2011.03199.x

    Web of Science

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  • A long-term follow-up study of Dravet syndrome up to adulthood Reviewed International journal

    Mari Akiyama, Katsuhiro Kobayashi, Harumi Yoshinaga, Yoko Ohtsuka

    EPILEPSIA   51 ( 6 )   1043 - 1052   2010.6

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

    DOI： 10.1111/j.1528-1167.2009.02466.x

    Web of Science

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Books

  • 新版 どう読む？こう読む！ てんかんの発作間欠期・発作時脳波

    （ Role： Contributor ,  97-101）

    株式会社 診断と治療社  2024.9  （ ISBN:9784787826480 ）

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  • 研究年報 第33集2022

    公益財団法人てんかん治療研究振興財団（ Role： Contributor ,  41-48）

    公益財団法人てんかん治療研究振興財団  2022.9  （ ISBN:9784902673333 ）

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  • フローチャートでわかる小児てんかん診療ガイド

    小林, 勝弘, 大塚, 頌子（ Role： Contributor ,  44-46, 78-79）

    診断と治療社  2022.6  （ ISBN:9784787825216 ）

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    Total pages：xiv, 293p   Language：Japanese

    CiNii Books

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MISC

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Awards

  • JUHN AND MARY WADA奨励賞

    2011.10   日本てんかん学会  

    秋山 麻里

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  • 岡山医学会賞（新見賞）

    2010   岡山医学会  

    秋山 麻里

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Research Projects

  • ケトン食による代謝変化の網羅的検討：新たな創薬ターゲットを目指して

    2019.04 - 2022.03

    公益財団法人 てんかん治療研究振興財団  2019年度研究助成 

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    Authorship：Principal investigator 

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Class subject in charge

  • Central and Peripheral Nervous System （2025academic year） special  - その他

  • General Laboratory Medicine （2025academic year） special  - その他

  • Elective Clinical Practice (Child Neurology) （2025academic year） special  - その他

  • Central and Peripheral Nervous System （2024academic year） special  - その他

  • General Laboratory Medicine （2024academic year） special  - その他

  • Central and Peripheral Nervous System （2023academic year） special  - その他

  • General Laboratory Medicine （2023academic year） special  - その他

  • Central and Peripheral Nervous System （2022academic year） special  - その他

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