A novel mutation in the sodium channel α1 subunit gene in a child with Dravet syndrome in Turkey

作     者：Mutluay Arslan Ulu Yis Hande aglayan Ridvan Akin 

作者机构：Department of Pediatric NeurologyGülhane Military Medical School Department of Pediatric NeurologyDokuz Eylül University School of Medicine Department of Molecular Biology and GeneticsBogazii University 

出 版 物：《Neural Regeneration Research》 (中国神经再生研究（英文版）)

年 卷 期：2013年第8卷第10期

页      面：955-958页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 100204[医学-神经病学] 10[医学] 

主　　题：neural regeneration clinical practice Dravet syndrome sodium channel (]1 subunit gene mutation child Turkish epilepsy refractory seizures neuroregeneration 

摘      要：Dravet syndrome is a rare epileptic encephalopathy characterized by frequent seizures beginning in the first year of life and behavioral disorders. Mutations in the sodium channel α1 subunit gene are the main cause of this disease. We report two patients with refractory seizures and psychomotor retardation in whom the final diagnosis was Dravet syndrome with confirmed mutations in the sodium channel α1 subunit gene. The mutation identified in the second patient was a novel frame shift mutation, which resulted from the deletion of five nucleotides in exon 24.