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Article

A novel de Novo KCNC1 mutation (c.1147 C > T) presenting with epilepsy and ADHD: a case report and literature review.

BMC neurology - 2 Feb 2026

Huang Chuyu, Kang Yongyan, Peng Runxin, Zhong Haoyuan, Zeng Ningjing, Zhang Linzhu, Chen Xinying, Du Shujuan

Abstract excerpt

BACKGROUND: Pathogenic KCNC1 mutations (encoding Kv3.1 potassium channels) drive heterogeneous neurological disorders, ranging from progressive myoclonus epilepsy-ataxia (MEAK) to developmental/epileptic encephalopathies (DEE) and global developmental delay. Transmembrane-domain variants predominantly cause MEAK-like phenotypes, whereas cytoplasmic mutations associate with severe DEE characterized by refractory...

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Identifiers

PMID: 41622135
DOI: 10.1186/s12883-026-04677-z
PMCID: PMC12954995

Genes

KCNC1

Variants

Provenance

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

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