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Article

KCNQ2-Associated Neonatal Epilepsy: Phenotype Might Correlate With Genotype.

Journal of child neurology - 1 Jul 2017

Lee Inn-Chi, Yang Jiann-Jou, Liang Jao-Shwann, Chang Tung-Ming, Li Shuan-Yow

Abstract excerpt

We analyzed the KCNQ2 wild-type gene and 3 mutations to highlight the important association between the KCNQ2 phenotype and genotype. The clinical phenotypes of 3 mutations (p.E515D, p.V543 M, and p.R213Q) were compared. KCNQ2, wild-type, and mutant KCNQ2 alleles were transfected into HEK293 cells before whole-cell patch-clamp analysis. Neurodevelopmental outcomes were worst in patients with the p.R213Q mutation,...

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Source

Identifiers

PMID: 28399683
DOI: 10.1177/0883073817701873

Genes

KCNQ2

Variants

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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