New approaches of treating developmental disorders in channelopathy

2012 Fiscal Year Final Research Report

• Project/Area Number: 23659522
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Okayama University
• Principal Investigator: OHMORI Iori 岡山大学, 大学院・医歯薬学総合研究科, 助教 (20403488)
• Project Period (FY): 2011 – 2012
• Keywords: 発達障害 / チャネル病 / 神経伝達物質 / SCN1A遺伝子 / CACNA1A遺伝子

Research Abstract

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.

Research Products

• [Journal Article] CACNA1A variants may modify the epileptic phenotype of Dravet syndrome. (2013)
  • Author(s): Ohmori I, Ouchida M, Kobayashi K, Jitsumori Y, Mori A, Michiue H, Nishiki T, Ohtsuka Y, Matsui H.
  • Journal Title: Neurobiol Dis Volume: 50 Pages: 209-17
  • Peer Reviewed
• [Journal Article] Inhalation of 10% carbon dioxide rapidly terminates Scn1amutation-related hyperthermia-induced seizures. (2013)
  • Author(s): Ohmori I, Hayashi K, Wang H, Ouchida M, Fujita N, Inoue T, Michiue H, Nishiki T, Matsui H.
  • Journal Title: Eplepsy Res
  • DOI: doi:pii: S0920-1211(13)00016-8. 10.1016/j.eplepsyres.2013.01.003.
  • Peer Reviewed
• [Journal Article] High-frequency EEG oscillations in hyperthermia-induced seizures of Scn1a mutant rats (2013)
  • Author(s): Kobayashi K, Ohmori I,Hayashi K, Kitagawa Y, Ouchida M, Inoue T, Ohtsuka Y.
  • Journal Title: Epilepsy Res Volume: 103(2-3) Pages: 161-6
  • DOI: doi:10.1016/j.eplepsyres.2012.07.020
  • Peer Reviewed
• [Journal Article] Acute encephalopathy with a novel point mutation in the SCN2A gene (2012)
  • Author(s): Kobayashi K, Ohzono H, Shinohara M, Saitoh M, Ohmori I, Ohtsuka Y, Mizuguchi M.
  • Journal Title: Epilepsy Res Volume: 102(1-2) Pages: 109-12
  • DOI: doi:10.1016/j.eplepsyres.2012.04.016.
  • Peer Reviewed
• [Journal Article] Additional information regarding "Dravet syndrome: Inroads into understanding epileptic encephalopathies" (2012)
  • Author(s): Kobayashi K, Ohtsuka Y, Ohmori I.
  • Journal Title: J Pediatr Volume: 160(3) Pages: 532-3
  • DOI: doi: 10.1016/j.jpeds.2011.11.058.
  • Peer Reviewed
• [Journal Article] Acute Encephalopathy in Children with Dravet Syndrome (2012)
  • Author(s): Okumura A, Uematsu M, Imataka G, TanakaM, Okanishi T, KubotaT, SudoA, Tohyama J, TsujiM, OhmoriI, NaikiM, Hiraiwa-Sofue A, SatoH, SaitohS, Shimizu T.
  • Journal Title: Epilepsia Volume: 53(1) Pages: 79-86
  • DOI: doi:10.1111/j.1528-1167.2011.03311.x.
  • Peer Reviewed
• [Journal Article] Dravet syndrome with an exceptionally good seizure outcome in two adolescents. (2011)
  • Author(s): Kobayashi K, Ohmori I,Ouchida M, Ohtsuka Y.
  • Journal Title: Epileptic Disord Volume: 13(3) Pages: 340-4
  • DOI: doi:10.1684/epd.2011.0453
  • Peer Reviewed
• [Journal Article] Therapy for hyperthermia-induced seizures in Scn1a mutant rats (2011)
  • Author(s): Hayashi K, Ueshima S, Ouchida M, Mashimo T, Nishiki T, Sendo T, Serikawa T, Matsui H, Ohmori I.
  • Journal Title: Epilepsia. Volume: 52 Pages: 1010-7
  • DOI: doi:10.1111/j.1528-1167.2011.03046.x.
  • Peer Reviewed
• [Presentation] SCN9A遺伝子変異/多型がドラベ症候群の臨床型におよぼす影響 (2012)
  • Author(s): 大守 伊織,Wang Haijiao,大内田 守,小林 勝弘,松井 秀樹
  • Organizer: 第46回日本てんかん学会
  • Place of Presentation: 東京
  • Year and Date: 20121011-12
• [Presentation] Scn1a遺伝子変異ラットにおける発達障害 (2012)
  • Author(s): 大守 伊織、大内田 守
  • Organizer: 第54回日本小児神経学総会
  • Place of Presentation: 札幌
  • Year and Date: 20120517-19
• [Presentation] 熱性けいれん既往患者におけるSCN9A遺伝子解析 (2012)
  • Author(s): 大守 伊織、小林勝弘、大内田 守
  • Organizer: 第54回日本小児神経学総会
  • Place of Presentation: 札幌
  • Year and Date: 20120517-19
• [Presentation] 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 (2012)
  • Author(s): 大内田守、大守伊織
  • Organizer: 第54回日本小児神経学総会
  • Place of Presentation: 札幌
  • Year and Date: 20120517-19
• [Presentation] Epilepsy-related voltage-gated calcium channel variants Cav2.1 shows a gain-of-function biophysical property. (2012)
  • Author(s): Ohmori I, Ouchida M, Kobayashi K, Michiue H, Nishiki T, Matsui H
  • Organizer: 第89回日本生理学大会
  • Place of Presentation: 松本
  • Year and Date: 20120329-31
• [Presentation] 自閉症の病態生理とモデル動物を用いた最新研究 (2012)
  • Author(s): 大守伊織
  • Organizer: 旭川荘療育センター児童院医局セミナー
  • Place of Presentation: 岡山
  • Year and Date: 2012-04-10
• [Presentation] Pathophysiology and treatment in a rat model of GEFS+ (2012)
  • Author(s): Ohmori I
  • Organizer: Epilepsy Forum in Okayama
  • Place of Presentation: 岡山
  • Year and Date: 2012-02-20
• [Remarks]
  • URL: http://seiri1.med.okayama-u.ac.jp/
• [Patent(Industrial Property Rights)] Dravet 症候群の発症可能性の判定方法およびその利用 (2011)
  • Inventor(s): 大守伊織, 大内田守
  • Industrial Property Rights Holder: 岡山大学
  • Industrial Property Number: PCT/JP2011/051636
  • Filing Date: 2011-01-27
  • Overseas
• [Patent(Industrial Property Rights)] てんかん波を伴う疾患治療剤 (2011)
  • Inventor(s): 大内田守, 大守伊織, 改田祐子
  • Industrial Property Rights Holder: 岡山大学
  • Industrial Property Number: PCT/JP2011/65845
  • Filing Date: 2011-07-12
  • Overseas