Two mild cases of Dravet syndrome with truncating mutation of SCN1A

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• 作者：Toru Takaori^a ; ^{torutakaori@gmail.com} ; Akira Kumakura^a ; Atsushi Ishii^b ; Shinichi Hirose^b ; Daisuke Hata^a
• 关键词：Dravet syndrome ; SCN1A truncating mutation ; Mild phenotype
• 刊名：Brain and Development
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：39
• 期：1
• 页码：72-74
• 全文大小：466 K
• 卷排序：39

文摘

SCN1A is the gene that codes for the neuronal voltage-gated sodium-channel alpha-subunit 1. It is generally considered that an SCN1A truncating mutation causes the severe phenotype of Dravet syndrome.PatientsWe describe 11- and 4-year-old male patients presenting with mild Dravet syndrome with a truncating mutation of SCN1A. The former patient showed moderate mental retardation; however, seizure was controlled to almost one incident a year by levetiracetam and topiramate. Carbamazepine was also effective, which is atypical of Dravet syndrome. The latter patient showed a borderline developmental quotient and did not have episodes of afebrile seizure.ConclusionTwo patients presented with mild Dravet syndrome, even though they had a truncating mutation of SCN1A. Not all truncating mutations of SCN1A cause the severe phenotype of Dravet syndrome.