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乳児期発症てんかんの遺伝学的解析に基づく精密医療の基盤構築

Research Project

Project/Area Number 21K07810
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 52050:Embryonic medicine and pediatrics-related
Research InstitutionAichi Medical University

Principal Investigator

奥村 彰久  愛知医科大学, 医学部, 教授 (60303624)

Co-Investigator(Kenkyū-buntansha) 倉橋 宏和  愛知医科大学, 医学部, 講師 (30621817)
東 慶輝  愛知医科大学, 医学部, 講師 (60628593)
Project Period (FY) 2021-04-01 – 2025-03-31
Project Status Completed (Fiscal Year 2024)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2023: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2022: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2021: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords乳児てんかん / 遺伝子解析 / 精密医療
Outline of Research at the Start

(1) 2歳未満に発症したてんかんのうち、周産期脳障害などの明らかな獲得性の病因を持たないものを広く対象とし、トリオ検体を用いた全エクソーム解析を行う。
(2) 全エクソーム解析で責任遺伝子を同定できなかった場合は、全ゲノム解析・ロングリードシークエンス・RNA-seq解析を行い、さらなる責任遺伝子の探索を行う。
(3) 発作症状や治療経過などの臨床情報に基づき、てんかんの表現型や薬剤の有効性を解析する。遺伝学的解析結果と臨床的解析結果を統合し、乳児期発症てんかんの遺伝学的情報に基づくprecision medicineの基盤を構築する。

Outline of Annual Research Achievements

2歳未満で発症するてんかんについて、以下の3つに対して遺伝学的解析を施行した。1)自然終息性乳児てんかん(SeLIE)が疑われる症例、2)Dravet症候群およびその近縁疾患が疑われる症例、3)発達性およびてんかん性脳症(DEE)。SeLIEでは、39例にPRRT2遺伝子バリアントの有無を検討し、11例にバリアントを認めた。PRRT2バリアントを認めない症例に対して全エクソーム解析を試行したところ、2例にTMEM151A遺伝子のバリアントを認めた。PRRT2バリアントの有無によって発作予後には大きな相違はないが、バリアントを認めない症例では発作が残存する例や知的能力症・神経発達症を認める症例が散見された。Dravet症候群を疑う症例では、10例について遺伝子解析を試行した。10例中5例にSCN1A遺伝子バリアントを認め、4例をDravet症候群、1例をGEFS+と診断した。Dravet症候群ではフェンフルラミンが著効し、遺伝子解析に基づく治療の可能性が示唆された。GEFS+の症例は発熱時の抗発作薬の頓用で経過を追跡している。DEEを疑う症例では、全エクソーム解析によってKCNT1、STXBP1、TBCD1、SCN2A、CLTC、CHD2、TRIM8など様々な遺伝子バリアントを同定することができた。ほとんどの症例が著しく治療抵抗性の重篤なてんかん発作と重度の発達遅滞を呈したが、STXBP1バリアントの1例はDravet症候群に類似した表現型を呈したにもかかわらず、家族の希望で抗発作薬を中止し、ケトン食による治療によって比較的発作コントロールは良好であった。この結果は、DEEにおいても遺伝子解析の結果に基づく精密医療が提供できる可能性を示唆するものであった。一方、KCNT1やSCN2Aバリアントには既知の精密医療のいずれもが効果を認めず、既存の治療法には限界があった。

Report

(4 results)
  • 2024 Annual Research Report
  • 2023 Research-status Report
  • 2022 Research-status Report
  • 2021 Research-status Report
  • Research Products

    (55 results)

All 2025 2024 2023 2022 2021

All Journal Article (39 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 39 results,  Open Access: 13 results) Presentation (15 results) (of which Int'l Joint Research: 3 results,  Invited: 10 results) Book (1 results)

  • [Journal Article] Clinical factors related to bilirubin encephalopathy in preterm infants: A case-control study2025

    • Author(s)
      Okumura Akihisa、Hayakawa Masahiro、Arai Hiroshi、Maruo Yoshihiro、Kusaka Takashi、Kunikata Tetsuya、Iwatani Sota、Sato Yoshiaki、Morioka Ichiro
    • Journal Title

      Brain and Development

      Volume: 47 Pages: 104342~104342

    • DOI

      10.1016/j.braindev.2025.104342

    • Related Report
      2024 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A 7-year delayed diagnosis in a case of spinal muscular atrophy2025

    • Author(s)
      Iwayama Hideyuki、Fukasawa Tatsuya、Azuma Yoshiteru、Kurahashi Hirokazu、Ito Yoshinori、Okumura Akihisa
    • Journal Title

      Brain and Development

      Volume: 47 Pages: 104320~104320

    • DOI

      10.1016/j.braindev.2025.104320

    • Related Report
      2024 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Characteristics of neonatal-onset and presumed neonatal arterial ischemic stroke2025

    • Author(s)
      Ueda Kazuto、Kataoka Erina、Natsume Jun、Hori Ikumi、Tsuji Takeshi、Miyake Misa、Suzuki Michio、Kobayashi Satoru、Kurahashi Hirokazu、Sato Yoshiaki、Okumura Akihisa、Yoshikawa Tetsushi、Saitoh Shinji、Takahashi Yoshiyuki
    • Journal Title

      Brain and Development

      Volume: 47 Pages: 104343~104343

    • DOI

      10.1016/j.braindev.2025.104343

    • Related Report
      2024 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Paroxysmal Kinesigenic Dyskinesia in Two Siblings With Novel Heterozygous <scp><i>TMEM151A</i></scp> Frameshift Variant: The First Case Report in Japan2025

    • Author(s)
      Kurahashi Hirokazu、Azuma Yoshiteru、Takeuchi Tomoya、Shimada Mayuko、Numoto Shingo、Nishida Mizuki、Ito Yoshinori、Ogi Tomoo、Okumura Akihisa
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: Apr 1 Pages: e64079

    • DOI

      10.1002/ajmg.a.64079

    • Related Report
      2024 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Second nationwide survey of bilirubin encephalopathy in preterm infants in Japan2024

    • Author(s)
      Okumura Akihisa、Morioka Ichiro、Arai Hiroshi、Hayakawa Masahiro、Maruo Yoshihiro、Kusaka Takashi、Kunikata Tetsuya、Iwatani Sota
    • Journal Title

      Brain and Development

      Volume: 46 Pages: 2~9

    • DOI

      10.1016/j.braindev.2023.08.009

    • Related Report
      2024 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Underlying Disorders in Children With Infection-Related Acute Encephalopathy2024

    • Author(s)
      Nakata Tomohiko、Natsume Jun、Yamamoto Hiroyuki、Ito Yuji、Suzuki Takeshi、Kawaguchi Masahiro、Shiraki Anna、Kumai Sumire、Sawamura Fumi、Suzui Ryosuke、Mitsumatsu Takamasa、Narita Hajime、Tsuji Takeshi、Kubota Tetsuo、Saitoh Shinji、Okumura Akihisa、Kidokoro Hiroyuki
    • Journal Title

      Pediatric Neurology

      Volume: 155 Pages: 126~132

    • DOI

      10.1016/j.pediatrneurol.2024.03.017

    • Related Report
      2024 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Acute Magnetic Resonance Imaging Findings in Young Children With Moyamoya Disease2024

    • Author(s)
      Numoto Shingo、Takasu Syuntaro、Nakamura Tomomi、Takagi Mizuki、Kurahashi Hirokazu、Azuma Yoshiteru、Okumura Akihisa
    • Journal Title

      Pediatric Neurology

      Volume: 156 Pages: 106~112

    • DOI

      10.1016/j.pediatrneurol.2024.03.025

    • Related Report
      2024 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Long-term efficacy of nusinersen and its evaluation in adolescent and adult patients with spinal muscular atrophy types 1 and 2.2023

    • Author(s)
      Iwayama H, Kawahara K, Okumura A, et al
    • Journal Title

      Brain Dev

      Volume: 45(2) Pages: 110-116

    • DOI

      10.1016/j.braindev.2022.10.006

    • Related Report
      2023 Research-status Report
    • Peer Reviewed
  • [Journal Article] A nationwide survey of human metapneumovirus-associated encephalitis/encephalopathy in Japan.2023

    • Author(s)
      Mori A, Kawano Y, Okumura A, et al.
    • Journal Title

      Brain Dev

      Volume: 45(4) Pages: 197-204

    • DOI

      10.1016/j.braindev.2023.01.001.

    • Related Report
      2023 Research-status Report
    • Peer Reviewed
  • [Journal Article] Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2.2023

    • Author(s)
      Sakuma H, Takanashi JI, Okumura A, et al.
    • Journal Title

      Front Neurosci

      Volume: 17 Pages: 1085082

    • DOI

      10.3389/fnins.2023.1085082

    • Related Report
      2023 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Bacteremia Caused by Kalamiella piersonii Found in an Infant During the Course of Gastrointestinal Food Allergy.2023

    • Author(s)
      Sada J, Hirai J, Okumura A, et al.
    • Journal Title

      Infect Drug Resist.

      Volume: 16 Pages: 2647-2651

    • DOI

      10.2147/IDR.S402364

    • Related Report
      2023 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Radial nerve palsy caused by a rapidly growing intramuscular hematoma in an infant with biliary atresia: a case report.2023

    • Author(s)
      Kawahara K, Ota K, Okumura A, et al.
    • Journal Title

      BMC Pediatr.

      Volume: 3(1) Pages: 247

    • DOI

      10.1186/s12887-023-04071-5

    • Related Report
      2023 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Current status of neonatal jaundice management in Japan.2023

    • Author(s)
      Honbe K, Hayakawa M, Okumura A, et al.
    • Journal Title

      Pediatr Int

      Volume: 65(1) Pages: e15617

    • DOI

      10.1111/ped.15617

    • Related Report
      2023 Research-status Report
    • Peer Reviewed
  • [Journal Article] Medical records as screening tools for child death review in Japan.2023

    • Author(s)
      Numaguchi A, Ishii A, Okumura A, et al.
    • Journal Title

      Pediatr Int

      Volume: 65(1) Pages: e15692

    • DOI

      10.1111/ped.15692

    • Related Report
      2023 Research-status Report
    • Peer Reviewed
  • [Journal Article] Burden of seizures and comorbidities in patients with epilepsy: a survey based on the tertiary hospital-based Epilepsy Syndrome Registry in Japan.2022

    • Author(s)
      Inoue Y, Hamano SI, Hayashi M, Okumura A, et al.
    • Journal Title

      Epileptic Disord

      Volume: 24(1) Pages: 82-94

    • DOI

      10.1684/epd.2021.1361

    • Related Report
      2022 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Acute encephalopathy with biphasic seizures and late reduced diffusion: Predictive EEG findings2022

    • Author(s)
      Ohno A, Okumura A, Fukasawa T, Nakata T, Suzuki M, Tanaka M, Okai Y, Ito Y, Yamamoto H, Tsuji T, Kidokoro H, Saitoh S, Natsume J.
    • Journal Title

      Brain Dev

      Volume: 44(3) Pages: 221-228

    • DOI

      10.1016/j.braindev.2021.11.003

    • Related Report
      2022 Research-status Report
    • Peer Reviewed
  • [Journal Article] Involvement of brain structures in childhood epilepsy with centrotemporal spikes2022

    • Author(s)
      Ito Y, Maki Y, Okai Y, Kidokoro H, Bagarinao E, Takeuchi T, Ohno A, Nakata T, Ishihara N, Okumura A, Yamamoto H, Maesawa S, Natsume J
    • Journal Title

      Pediatr Int

      Volume: 64(1) Pages: e15001

    • DOI

      10.1111/ped.1500

    • Related Report
      2022 Research-status Report
    • Peer Reviewed
  • [Journal Article] Death review of children receiving medical care at home2022

    • Author(s)
      Natsume J, Numaguchi A, Ohno A, Mizuno M, Takahashi Y, Okumura A, Yoshikawa T, Saitoh S, Miura K, Noda M
    • Journal Title

      Pediatr Res

      Volume: 91(5) Pages: 1286-1289

    • DOI

      10.1038/s41390-021-01606-3

    • Related Report
      2022 Research-status Report
    • Peer Reviewed
  • [Journal Article] Subcortical infarction in a young adult with Hunter syndrome2022

    • Author(s)
      Kimura M, Azuma Y, Taguchi S, Takagi M, Mori H, Shimomura Y, Niwa JI, Doyu M, Okumura A.
    • Journal Title

      Brain Dev

      Volume: 44(5) Pages: 343-346

    • DOI

      10.1016/j.braindev.2022.01.003.

    • Related Report
      2022 Research-status Report
    • Peer Reviewed
  • [Journal Article] Mild encephalitis with a reversible splenial lesion associated with SARS-CoV-2 infection in a patient with MYRF variant.2022

    • Author(s)
      Saito M, Nakazawa T, Toriumi S, Takasu M, Yagisawa H, Murano Y, Miyazaki N, Kurahashi H, Okumura A, Shimizu T.
    • Journal Title

      Front Pediatr

      Volume: 10 Pages: 971432

    • DOI

      10.3389/fped.2022.971432

    • Related Report
      2022 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.2022

    • Author(s)
      Narita K, Muramatsu H, Narumi S, Nkawa T, Okumura A, et al.
    • Journal Title

      Sci Rep

      Volume: 12(1) Pages: 14589

    • DOI

      10.1038/s41598-022-14161-6

    • Related Report
      2022 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Five patients with myocarditis after mRNA COVID-19 vaccination2022

    • Author(s)
      Murase H, Zhu Y, Sakaida K, Mizuno H, Mori H, Iwayama H, Suzuki N, Nagai N, Okumura A
    • Journal Title

      Front Pediatr

      Volume: 10 Pages: 977476

    • DOI

      10.3389/fped.2022.977476

    • Related Report
      2022 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Human herpesvirus 6 DNA was not detected in a brain specimen from a patient with mesial temporal sclerosis after status epilepticus due to human herpesvirus 6 infection2022

    • Author(s)
      Kawamura Y, Maesawa S, Numoto S, Saito R, Yoshikawa T, Okumura A
    • Journal Title

      Epilepsia Open

      Volume: 7(4) Pages: 817-821

    • DOI

      10.1002/epi4.12634

    • Related Report
      2022 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A pilot study of serum free carnitine levels in hospitalized febrile children.2021

    • Author(s)
      Okumura A, Muto T, Nakamura N, Masuda Y, Kodama S.
    • Journal Title

      Pediatr Int.

      Volume: 63 Pages: 102-103

    • DOI

      10.1111/ped.14360.

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] Auditory brainstem response in preterm infants with bilirubin encephalopathy.2021

    • Author(s)
      Okumura A, Kitai Y, Arai H, Hayakawa M, Maruo Y, Kusaka T, Kunikata T, Kumada S, Morioka I.
    • Journal Title

      Early Hum Dev.

      Volume: 154 Pages: 105319

    • DOI

      10.1016/j.earlhumdev.2021.105319.

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] Magnetic resonance imaging abnormalities during the neonatal period in preterm infants with bilirubin encephalopathy.2021

    • Author(s)
      Okumura A, Kitai Y, Arai H.
    • Journal Title

      Pediatr Neonatol.

      Volume: 62 Pages: 567-568

    • DOI

      10.1016/j.pedneo.2021.03.013.

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] Carnitine supplementation prevents carnitine deficiency caused by pivalate-conjugated antibiotics in patients with epilepsy prescribed valproate.2021

    • Author(s)
      Okumura A, Numoto S, Iwayama H, Azuma Y, Kurahashi H.
    • Journal Title

      Epilepsy Behav.

      Volume: 117 Pages: 107883

    • DOI

      10.1016/j.yebeh.2021.107883.

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] Neonatal Jaundice in Preterm Infants with Bilirubin Encephalopathy.2021

    • Author(s)
      Okumura A, Ichimura S, Hayakawa M, Arai H, Maruo Y, Kusaka T, Kunikata T, Kumada S, Morioka I.
    • Journal Title

      Neonatology.

      Volume: 118 Pages: 301-309

    • DOI

      10.1159/000513785.

    • Related Report
      2021 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Magnetic Resonance Imaging Findings in Preterm Infants With Bilirubin Encephalopathy Beyond Three Years Corrected Age.2021

    • Author(s)
      Okumura A, Kitai Y, Arai H, Hayakawa M, Maruo Y, Kusaka T, Kunikata T, Kumada S, Morioka I.
    • Journal Title

      Pediatr Neurol.

      Volume: 121 Pages: 56-58

    • DOI

      10.1016/j.pediatrneurol.2021.05.019.

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] Effects of l-carnitine supplementation in patients with childhood-onset epilepsy prescribed valproate.2021

    • Author(s)
      Okumura A, Takagi M, Numoto S, Iwayama H, Azuma Y, Kurahashi H.
    • Journal Title

      Epilepsy Behav.

      Volume: 122 Pages: 108220

    • DOI

      10.1016/j.yebeh.2021.108220.

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] Guidelines for the diagnosis and treatment of acute encephalopathy in childhood.2021

    • Author(s)
      Mizuguchi M, Ichiyama T, Imataka G, Okumura A, Goto T, Sakuma H, Takanashi JI, Murayama K, Yamagata T, Yamanouchi H, Fukuda T, Maegaki Y.
    • Journal Title

      Brain Dev

      Volume: 43 Pages: 2-31

    • DOI

      10.1016/j.braindev.2020.08.001.

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] Three-Year Longitudinal Motor Function and Disability Level of Acute Flaccid Myelitis.2021

    • Author(s)
      Chong PF, Kira R, Torisu H, Yasumoto S, Okumura A, Mori H, Tanaka-Taya K
    • Journal Title

      Pediatr Neurol

      Volume: 116 Pages: 14-19

    • DOI

      10.1016/j.pediatrneurol.2020.11.019

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] Acute encephalopathy in children with tuberous sclerosis complex.2021

    • Author(s)
      Numoto S, Kurahashi H, Sato A, Kubota M, Shiihara T, Okanishi T, Tanaka R, Kuki I, Fukuyama T, Kashiwagi M, Ikeno M, Kubota K, Akasaka M, Mimaki M, Okumura A.
    • Journal Title

      Orphanet J Rare Dis.

      Volume: 16 Pages: 1-5

    • DOI

      10.1186/s13023-020-01646-8.

    • Related Report
      2021 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Evaluation of the Diagnostic Criteria for Anti-NMDA Receptor Encephalitis in Japanese Children.2021

    • Author(s)
      Nishida H, Kohyama K, Kumada S, Takanashi JI, Okumura A, Horino A, Moriyama K, Sakuma H.
    • Journal Title

      Neurology.

      Volume: 96 Pages: e2070-e2077

    • DOI

      10.1212/WNL.0000000000011789.

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] Repetitive sleep starts: An important differential diagnosis of infantile spasms.2021

    • Author(s)
      Maki Y, Kidokoro H, Okumura A, Yamamoto H, Nakata T, Fukasawa T, Kubota T, Kawaguchi M, Suzuki T, Tanaka M, Okai Y, Sakaguchi Y, Ohno A, Negoro T, Takahashi Y, Natsume J.
    • Journal Title

      Epilepsy Behav.

      Volume: 121 Pages: 108075

    • DOI

      10.1016/j.yebeh.2021.108075.

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] Clinical and electrophysiological features of acute flaccid myelitis: A national cohort study.2021

    • Author(s)
      Chong PF, Torisu H, Yasumoto S, Okumura A, Mori H, Sato T, Kimura J, Ohga S, Tanaka-Taya K, Kira R
    • Journal Title

      Clin Neurophysiol.

      Volume: 132 Pages: 2456-2463

    • DOI

      10.1016/j.clinph.2021.07.013.

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan.Insulin-like growth factor-1 level is a poor diagnostic indicator of growth hormone deficiency.2021

    • Author(s)
      IwIwayama H, Tanaka T, Aoyama K, Moroto M, Adachi S, Fujisawa Y, Matsuura H, Takano K, Mizuno H, Okumura A.ayama H, Kitagawa S, Sada J, Miyamoto R, Hayakawa T, Kuroyanagi Y, Muto T, Kurahashi H, Ohashi W, Takagi J, Okumura A.
    • Journal Title

      Front Neurol.

      Volume: 12 Pages: 657820

    • DOI

      10.3389/fneur.2021.657820

    • Related Report
      2021 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.2021

    • Author(s)
      Iwayama H, Kakita H, Iwasa M, Adachi S, Takano K, Kikuchi M, Fujisawa Y, Osaka H, Yamada Y, Okumura A, Hirani K, Weiss RE, Refetoff S.
    • Journal Title

      Thyroid.

      Volume: 31 Pages: 1316-1321

    • DOI

      10.1089/thy.2020.0696.

    • Related Report
      2021 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Sodium channel blockers are effective for benign infantile epilepsy.2021

    • Author(s)
      Numoto S, Kurahashi H, Takagi M, Azuma Y, Iwayama H, Okumura A.
    • Journal Title

      Seizure

      Volume: 92 Pages: 207-210

    • DOI

      10.1016/j.seizure.2021.09.008.

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Presentation] 新生児発作の脳波2024

    • Author(s)
      奥村彰久
    • Organizer
      第57回日本てんかん学会学術集会
    • Related Report
      2024 Annual Research Report
    • Invited
  • [Presentation] Neonatal EEG in perinatal brain injuries in term and preterm infants2024

    • Author(s)
      Akihisa Okumura
    • Organizer
      2024 Annual Meeting of the Children’s Epilepsy Association of Taiwan
    • Related Report
      2024 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 学校におけるてんかん発作への対応2024

    • Author(s)
      奥村彰久
    • Organizer
      日本養護教諭教育学会 第32回学術集会
    • Related Report
      2024 Annual Research Report
    • Invited
  • [Presentation] SPTBN2 遺伝子変異による乳児期発症脊髄小脳変性症の1 例2024

    • Author(s)
      倉橋宏和、丸山幸一、山下大記、村松秀城、奥野友介、水野誠司、奥村彰久
    • Organizer
      第59 回日本小児神経学会東海地方会
    • Related Report
      2024 Annual Research Report
  • [Presentation] てんかん発作とてんかんでない「発作」:見分けるコツ2023

    • Author(s)
      奥村彰久
    • Organizer
      第126回日本小児科学会学術集会
    • Related Report
      2023 Research-status Report
    • Invited
  • [Presentation] Dravet症候群の診断と治療 New Chapter2023

    • Author(s)
      奥村彰久
    • Organizer
      第34回日本小児神経学会中国・四国地方会
    • Related Report
      2023 Research-status Report
    • Invited
  • [Presentation] 子どものてんかん診療における脳波の役割と抗発作薬2023

    • Author(s)
      奥村彰久、河村吉紀、前澤聡、沼本真吾、斎藤竜太、吉川哲史
    • Organizer
      第19回日本てんかん学会近畿地方会
    • Related Report
      2023 Research-status Report
    • Invited
  • [Presentation] 旧来の抗てんかん薬の出番は限られる2022

    • Author(s)
      奥村彰久
    • Organizer
      第55回日本てんかん学会学術集会
    • Related Report
      2022 Research-status Report
  • [Presentation] 新分類って使いにくくないですか?2022

    • Author(s)
      奥村彰久
    • Organizer
      第55回日本てんかん学会学術集会
    • Related Report
      2022 Research-status Report
  • [Presentation] HHV-6によるけいれん性てんかん重積に続発した内側側頭葉硬化病変のウイルス学的解析2022

    • Author(s)
      奥村彰久、河村吉紀、前澤聡、沼本真吾、斎藤竜太、吉川哲史
    • Organizer
      第26回日本神経感染症学会学術大会
    • Related Report
      2022 Research-status Report
  • [Presentation] Amplitude-integrated EEG in Paediatric Patients: What is aEEG2021

    • Author(s)
      Akihisa Okumura.
    • Organizer
      The 13th Asian & Oceanian Epilepsy Congress
    • Related Report
      2021 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] Amplitude-integrated EEG in Paediatric Patients: aEEG in Children2021

    • Author(s)
      Akihisa Okumura.
    • Organizer
      The 13th Asian & Oceanian Epilepsy Congress
    • Related Report
      2021 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] 新生児発作の診断と治療2021

    • Author(s)
      奥村彰久
    • Organizer
      第54回日本てんかん学会学術集会
    • Related Report
      2021 Research-status Report
    • Invited
  • [Presentation] 小児急性脳炎・脳症の変遷:全国調査から2021

    • Author(s)
      奥村彰久
    • Organizer
      第25回日本神経感染症学会学術大
    • Related Report
      2021 Research-status Report
    • Invited
  • [Presentation] バルプロ酸を内服中のてんかん患者におけるカルニチン補充の効果2021

    • Author(s)
      奥村彰久、沼本真吾、東慶輝、倉橋宏和
    • Organizer
      第54回日本てんかん学会学術集会
    • Related Report
      2021 Research-status Report
  • [Book] 初心者のための小児のてんかん・けいれん2022

    • Author(s)
      奥村彰久、白石秀明
    • Total Pages
      354
    • Publisher
      中外医学社
    • ISBN
      978-4-498-32890-7
    • Related Report
      2022 Research-status Report

URL: 

Published: 2021-04-28   Modified: 2025-12-26  

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