H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus

H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus

Abstract Purpose The aim of this was to discover disease‐causing gene mutations linked to genetic epilepsy with febrile seizures plus (GEFS+) in a family in the Southern Chinese Han population. Of a three‐generation pedigree of 18 members in this family, 4 were affected with GEFS+. Method Blood samp...

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Bibliographic Details
Main Authors: Jian Ding, Qin‐Fei Miao, Jing‐Wen Zhang, Yu‐Xiong Guo, Yu‐Xin Zhang, Qiong‐Xiang Zhai, Zhi‐Hong Chen
Format: Article
Language:English
Published: Wiley 2020-12-01
Series:Brain and Behavior
Subjects:
Chinese pedigree
genetic epilepsy with febrile seizures plus (GEFS+)
patch‐clamp technique
potassium voltage‐gated channel subfamily A regulatory beta subunit 3 (KCNAB3)
whole‐exome sequencing
Online Access:https://doi.org/10.1002/brb3.1859

Internet

https://doi.org/10.1002/brb3.1859

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