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Article

[A novel mutation in KCNQ2 gene causes benign familial infantile convulsions (BFIC) in a Chinese family].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jul 2006

Zhou Xi-hui, Ma Ai-qun, Liu Xiao-hong, Huang Chen, Zhang Yan-min, Shi Rui-ming

Abstract excerpt

OBJECTIVE: Benign familial infantile convulsions (BFIC) is a form of idiopathic epileptic syndrome characterized by onset of afebrile seizures between 3 and 12 months of life, Spontaneous remission after several weeks or months, and autosomal dominant mode of inheritance. Previous linkage analysis in western countries defined three susceptible loci on chromosomes 19q12.0-13.1, 16p12-q12, and 2q23-31, but studies...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17044971

Genes

KCNQ2
KCNQ3

Variants

Provenance

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[A novel mutation in KCNQ2 gene causes benign familial infantile convulsions (BFIC) in a Chinese family].PMID 17044971Read ↗

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The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.Semantic proximity Read ↗

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[Benign familial neonatal convulsions: molecular pathology and diagnosis].Semantic proximity Read ↗

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.Semantic proximity Read ↗

Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes.Semantic proximity Read ↗

A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family.Semantic proximity Read ↗

Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.Semantic proximity Read ↗

[Spectrum of mutations in benign familial neonatal-infantile epilepsy].Semantic proximity Read ↗

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