Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy

详细信息    查看全文

• 作者：Toshiyuki Yamamoto^a ; ^{yamamoto.toshiyuki@twmu.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Keiko Shimojima^a ; Tamami Yano^b ; Yuki Ueda^c ; Rumiko Takayama^c ; Hiroko Ikeda^c ; Katsumi Imai^c
• 关键词：STXBP1-related epileptic encephalopathy ; Ohtahara syndrome ; West syndrome ; Loss-of-function
• 刊名：Brain and Development
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：38
• 期：3
• 页码：280-284
• 全文大小：603 K

文摘

Epileptic encephalopathy, which commences during early infancy, is a severe epileptic syndrome that manifests as age-dependent seizures and severe developmental delay. The syntaxin-binding protein 1 gene (STXBP1) is one of the genes responsible for epileptic encephalopathy. We conducted a cohort study to analyze STXBP1 in 42 patients with epileptic encephalopathy. We identified four novel mutations: two splicing mutations, a frameshift mutation, and a nonsense mutation. All of these mutations were predicted to cause loss-of-function. This result suggests loss-of-function is a common mechanism underlying STXBP1-related epileptic encephalopathy. The four patients showed epileptic features consistent with STXBP1-related epileptic encephalopathy, but showed variable radiological findings, including brain volume loss and myelination delay.