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Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+).

Seizure - 1 May 2021

Ma Hongxia, Guo Yuxiong, Chen Zhihong, Wang Lingan, Tang Zhihong, Zhang Jingwen, Miao Qinfei, Zhai Qiongxiang

Abstract excerpt

PURPOSE: To explore disease-causing gene mutations of epilepsy with febrile seizures plus (EFS+) in Southern Chinese Han population. METHODS: Blood samples and clinical data were collected from 49 Southern Han Chinese patients with EFS+. Gene screening was performed using whole-exome sequencing and panel sequencing for 485 epilepsy-related genes. The pathogenicity of variants was evaluated based on ACMG scoring...

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Asian People
China
Epilepsies, Myoclonic
Epilepsy
NAV1.1 Voltage-Gated Sodium Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

NAV1.7 Voltage-Gated Sodium Channel

Seizures, Febrile

Sodium Channels

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PMID: 33895391
DOI: 10.1016/j.seizure.2021.04.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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