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Article

KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.

Journal of medical genetics - 1 Apr 2016

Lim Chiao Xin, Ricos Michael G, Dibbens Leanne M, Heron Sarah E

Abstract excerpt

Mutations in the sodium-gated potassium channel subunit gene KCNT1 have recently emerged as a cause of several different epileptic disorders. This review describes the mutational and phenotypic spectrum associated with the gene and discusses the comorbidities found in patients, which include intellectual disability and psychiatric features. The gene may also be linked with cardiac disorders. KCNT1 missense...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26740507
DOI: 10.1136/jmedgenet-2015-103508

Genes

KCNT1

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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