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Article

[A novel mutation of KCNQ2 gene in a Chinese family with benign familial neonatal convulsions].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2003

Li Hai-yan, Tang Bei-sha, Zhang Ai-mei, Cao Qiu-hui, Meng Gui-lian, Jiang Hong, Shen Lu

Abstract excerpt

OBJECTIVE: To diagnose a Chinese benign familial neonatal convulsions (BFNC) family at the level of gene and investigate its molecular pathogenesis. METHODS: All family members were studied by clinical examinations and linkage analysis. Mutation analysis of KCNQ2 gene was made by means of polymerase chain reaction (PCR)-direct sequencing and PCR-single strand conformation polymorphism (SSCP) in the proband, 16...

Read the complete abstract on PubMed

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Share to Epilepsy, Benign Neonatal
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14669214

Genes

KCNQ2
KCNQ3

Provenance

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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