[Analysis of clinical phenotypes and pathogenicity of a c.4476+5G>T variant of SCN1A gene in a Chinese pedigree affected with Genetic epilepsy with febrile seizures plus].

doi:10.3760/cma.j.cn511374-20250703-00403

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[Analysis of clinical phenotypes and pathogenicity of a c.4476+5G>T variant of SCN1A gene in a Chinese pedigree affected with Genetic epilepsy with febrile seizures plus].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2026

Zheng Lei, Wang Yanhong, Lian Yajun, Mei Shiyue, Zhao Xuechao

Abstract excerpt

OBJECTIVE: To explore the pathogenicity and characteristics of a heterozygous splicing variant of SCN1A gene in a Chinese pedigree affected with Genetic epilepsy with febrile seizures plus (GEFS+). METHODS: A retrospective analysis was carried out on the clinical data and results of genetic testing of a GEFS+ pedigree consisting of 5 members who had visited the First Affiliated Hospital of Zhengzhou University on...

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Topics

Adult
Female
Humans
Male
Young Adult
Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Epilepsy, Generalized

NAV1.1 Voltage-Gated Sodium Channel

Pedigree

Phenotype

Retrospective Studies

Seizures, Febrile

East Asian People

Source

Open in PubMed

Identifiers

PMID: 42711132
DOI: 10.3760/cma.j.cn511374-20250703-00403

Genes

SCN1A
KY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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