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Article

KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine.

Annals of clinical and translational neurology - 1 Apr 2023

Müller Peter, Takacs Danielle S, Hedrich Ulrike B S, Coorg Rohini, Masters Laura, Glinton Kevin E, Dai Hongzheng, Cokley Jon A, Riviello James J, Lerche Holger, Cooper Edward C

Abstract excerpt

Precision medicine for Mendelian epilepsy is rapidly developing. We describe an early infant with severely pharmacoresistant multifocal epilepsy. Exome sequencing revealed the de novo variant p.(Leu296Phe) in the gene KCNA1, encoding the voltage-gated K+ channel subunit KV 1.1. So far, loss-of-function variants in KCNA1 have been associated with episodic ataxia type 1 or epilepsy. Functional studies of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36793218
DOI: 10.1002/acn3.51742
PMCID: PMC10109319

Genes

KCNA1

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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