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J-GLOBAL ID：201502207458243983   Reference number：15A0590897

A case of recurrent encephalopathy with SCN2A missense mutation

SCN2Aミスセンス変異を伴う再発脳症の症例

Author (8)： FUKASAWA Tatsuya (Dep. of Pediatrics, Anjo Kosei Hospital, Aichi, JPN) ,  KUBOTA Tetsuo (Dep. of Pediatrics, Anjo Kosei Hospital, Aichi, JPN) ,  NEGORO Tamiko (Dep. of Pediatrics, Anjo Kosei Hospital, Aichi, JPN) ,  SAITOH Makiko (Dep. of Developmental Medical Sciences, Graduate School of Medicine, Univ. of Tokyo, JPN) ,  MIZUGUCHI Masashi (Dep. of Developmental Medical Sciences, Graduate School of Medicine, Univ. of Tokyo, JPN) ,  IHARA Yukiko (Dep. of Pediatrics, School of Medicine, Fukuoka Univ., Fukuoka, JPN) ,  ISHII Atsushi (Dep. of Pediatrics, School of Medicine, Fukuoka Univ., Fukuoka, JPN) ,  HIROSE Shinichi (Dep. of Pediatrics, School of Medicine, Fukuoka Univ., Fukuoka, JPN)
Material： Brain & Development  (Brain & Dev)
Volume： 37  Issue： 6  Page： 631-634  Publication year： Jun. 2015 
JST Material Number： W0814A  ISSN： 0387-7604  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： *SCN2A ,...

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JST classification (1)： Nervous system diseases  (GN03000O)

Reference (10)：

• Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, et al. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet 2009;84:44-51.
• Hidaka F, Matsuo S, Muta T, Takeshige K, Mizukami T, Nunoi H. A missense mutation of the Toll-like receptor 3 gene in a patient with influenza-associated encephalopathy. Clin Immunol 2006;119:188-94.
• Saitoh M, Shinohara M, Hoshino H, Kubota M, Amemiya K, Takanashi J, et al. Mutations of the SCN1A gene in acute encephalopathy. Epilepsia 2012;53:558-64.
• Kubota M, Chida J, Hoshino H, Ozawa H, Koide A, Kashii H, et al. Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children. Brain Dev 2012;34:20-7.
• Shinohara M, Saitoh M, Nishizawa D, Ikeda K, Hirose S, Takanashi J, et al. ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus. Neurology 2013;80:1571-6.

Terms in the title (4)： ミスセンス変異 ,  再発 ,  脳症 ,  症例