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Article

A Novel KCNQ2 Gain-of-Function Variant I134N Causes Severe Developmental and Epileptic Encephalopathy.

American journal of medical genetics. Part A - 1 May 2026

Zeng Fengmei, Ye Xiaoying, Gao Zhaobing, Tian Fuyun, Shen Yanwen

Abstract excerpt

Missense variants in the KCNQ2 gene can cause developmental and epileptic encephalopathy (DEE). While most KCNQ2-DEE cases are attributed to loss-of-function (LOF) mutations, gain-of-function (GOF) mutations have also been implicated in the disorder. This study describes the clinical features of a DEE patient with a KCNQ2 mutation in the voltage-sensing domain (VSD) and analyzes the variant's electrophysiological...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41493289
DOI: 10.1002/ajmga.70044

Genes

KCNQ2
KCNQ3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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