SCN8A mutations in Chinese patients with early onset epileptic   encephalopathy and benign infantile seizures

doi:10.1186/s12881-017-0460-1

CORC > 北京大学 > 生命科学学院

	SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures
	Wang, Jiaping ; Gao, Hua ; Bao, Xinhua ; Zhang, Qingping ; Li, Jiarui ; Wei, Liping ; Wu, Xiru ; Chen, Yan ; Yu, Shujie
刊名	BMC MEDICAL GENETICS
	2017
关键词	SCN8A Epileptic encephalopathy Family cases DE-NOVO MUTATIONS SODIUM-CHANNEL PHENOTYPIC SPECTRUM CLINICAL SPECTRUM SCN2A MUTATIONS RECURRENT NA(V)1.6 CHILDREN
DOI	10.1186/s12881-017-0460-1
英文摘要	Background: SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutations. Methods: To identify the pathogenic gene of a Chinese family, in which six members suffered from epilepsy, whole-exome sequencing was performed. In addition, target next-generation sequencing (NGS) was performed on 178 sporadic patients, who had epilepsy of unknown etiology within 6 months after birth. A detailed clinical history was obtained. Results: A heterozygous missense mutation of SCN8A was identified in the Chinese family. Six de novo mutations of SCN8A were detected in 6 sporadic patients with epilepsy. In the family, six members developed seizures within a few years after birth. Five of them had milder clinical performance, that they had normal cognition and developmental milestones, and seizure-free was achieved by mono-therapy. The other one affected member presented with refractory epilepsy and developmental regression. She died from sudden unexpected death in epilepsy (SUDEP) at 17-year-old. Clinical features of six sporadic patients with SCN8A mutations were diverse, ranging from severe epileptic encephalopathy to benign epilepsy with normal cognition. Seizures started at the mean age of 3.9 months (from 2 months to 6 months). Seizure-free was achieved in four of them by mono-or multi-antiepileptic drugs. Five of them demonstrated mild or severe psychomotor retardation, whereas the other one was normal in development and intelligence. Conclusions: Our findings extend the spectrum of SCN8A mutations and the clinical features of patients with SCN8A mutations. The majority of SCN8A mutations were de novo, inherited mutations from the heterozygous parents can also occur. The phenotypic spectrum of SCN8A mutation varied largely. Most affected patients manifested as refractory epilepsy and severe intellectual disability, only a small number of patients presented with milder clinical patterns. Additionally, our study confirmed that the same mutation can lead to different phenotypes.; 985 Peking University; Clinical Hospital Cooperation Project [2013-1-06]; Harbin Science and Technology Bureau [2016RAXYJ089]; SCI(E); ARTICLE; 18
语种	英语
内容类型	期刊论文
源URL	[http://ir.pku.edu.cn/handle/20.500.11897/470830]
专题	生命科学学院
推荐引用方式 GB/T 7714	Wang, Jiaping,Gao, Hua,Bao, Xinhua,et al. SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures[J]. BMC MEDICAL GENETICS,2017.
APA	Wang, Jiaping.,Gao, Hua.,Bao, Xinhua.,Zhang, Qingping.,Li, Jiarui.,...&Yu, Shujie.(2017).SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.BMC MEDICAL GENETICS.
MLA	Wang, Jiaping,et al."SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures".BMC MEDICAL GENETICS (2017).