A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report

A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report

Abstract Background Epilepsy is a complex disorder caused by various factors, including genetic aberrance. Recent studies have identified an essential role of the sodium channel Nav1.6, encoded by the gene SCN8A, in epileptic encephalopathy. Case presentation Using parent-offspring trio targeted-exo...

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Bibliographic Details
Main Authors: Kao-Min Lin, Geng Su, Fengpeng Wang, Xiaobin Zhang, Yuanqing Wang, Jun Ren, Xin Wang, Yi Yao, Ying Zhou
Format: Article
Language:English
Published: BMC 2019-11-01
Series:BMC Pediatrics
Subjects:
Epileptic encephalopathy
Missense mutation
SCN8A
Targeted exome sequencing
Online Access:http://link.springer.com/article/10.1186/s12887-019-1796-9

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http://link.springer.com/article/10.1186/s12887-019-1796-9

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