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Article

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

Brain and behavior - 1 Dec 2020

Ding Jian, Miao Qin-Fei, Zhang Jing-Wen, Guo Yu-Xiong, Zhang Yu-Xin, Zhai Qiong-Xiang, Chen Zhi-Hong

Abstract excerpt

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 samples of 7 family members-3 affected and 4 unaffected individuals-were collected. Whole-exome sequencing was performed to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Shaker Superfamily of Potassium Channels

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Identifiers

PMID: 32990398
DOI: 10.1002/brb3.1859
PMCID: PMC7749510

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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