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Article

[Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Aug 2012

Xu Xiao-jing, Zhang Yue-hua, Sun Hui-hui, Liu Xiao-yan, Wu Hu-sheng, Wu Xi-ru

Abstract excerpt

OBJECTIVE: To summarize the phenotypes and identify SCN1A mutations in families with generalized epilepsy with febrile seizures plus (GEFS(+)), and analyze the genotype- phenotype correlations in GEFS(+) families. METHOD: Genomic DNA was extracted from peripheral blood lymphocytes of the proband and other available members in the GEFS(+) families. The phenotypes of the affected members were analyzed. The coding...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to NAV1.1 Voltage-Gated Sodium Channel

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Source

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PMID: 23158734

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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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