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Article

Novel KCNQ2 missense variant expands the genotype spectrum of DEE7.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Nov 2024

Wang Chao, Zhai JinXia, Chen YongJun

Abstract excerpt

BACKGROUND: KCNQ is a voltage-gated K + channel that controls neuronal excitability and is mutated in epilepsy and autism spectrum disorder (ASD). We focus on the KV7.2 voltage-gated potassium channel gene (KCNQ2), which is known for its association with developmental delay and various seizures (including self-limited benign familial neonatal epilepsy and epileptic encephalopathy). But the pathogenicity of many...

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PMID: 38880853
DOI: 10.1007/s10072-024-07655-w

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