De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis

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• 作者：Kameryn M. Butler^a ; Cristina da Silva^a ; ^b ; Yuval Shafir^c ; James D. Weisfeld-Adams^d ; John J. Alexander^a ; ^b ; Madhuri Hegde^a ; Andrew Escayg^a ; ^{aescayg@emory.edu}
• 关键词：SCN8A ; Sodium channels ; Epilepsy ; Gene panel analysis
• 刊名：Epilepsy Research
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：129
• 期：Complete
• 页码：17-25
• 全文大小：923 K
• 卷排序：129

文摘

Five SCN8A variants were identified in individuals with severe and mild epilepsy. Variation in SCN8A may contribute to neurodevelopmental disorders without seizures. Four distinct clusters of pathogenic variants were identified within the channel. These clusters are located in regions of the channel important for inactivation.