Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures
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- 作者：Makiko Saitoha ; makisaito-tky@umin.ac.jp" class="auth_mail" title="E-mail the corresponding author ; Atsushi Ishiib ; Yukiko Iharab ; Ai Hoshinoa ; Hiroshi Terashimac ; Masaya Kubotac ; Kenjiro Kikuchid ; Gaku Yamanakae ; Kaoru Amemiyaf ; Shinichi Hiroseb ; Masashi Mizuguchia
- 关键词：Voltage-gated sodium channels ; Acute encephalopathy ; Status epilepticus
- 刊名：Epilepsy Research
- 出版年：2015
- 出版时间：November 2015
- 年：2015
- 卷：117
- 期：Complete
- 页码：1-6
- 全文大小：563 K
文摘
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AESD is a childhood acute encephalopathy following severe febrile seizures.
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Five out of 92 AESD patients had missense mutations either in SCN1A or SCN2A.
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Two of the five mutations had been reported in Dravet syndrome.
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None of the five patients were diagnosed with Dravet syndrome or GEFS+.
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Mutations in SCN1A and SCN2A are a predisposing factor of AESD.