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Article

A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia.

Scientific reports - 4 Jul 2017

Hasan Sonia, Bove Cecilia, Silvestri Gabriella, Mantuano Elide, Modoni Anna, Veneziano Liana, Macchioni Lara, Hunter Therese, Hunter Gary, Pessia Mauro, D'Adamo Maria Cristina

Abstract excerpt

Channelopathy mutations prove informative on disease causing mechanisms and channel gating dynamics. We have identified a novel heterozygous mutation in the KCNA1 gene of a young proband displaying typical signs and symptoms of Episodic Ataxia type 1 (EA1). This mutation is in the S4 helix of the voltage-sensing domain and results in the substitution of the highly conserved phenylalanine 303 by valine (p.F303V)....

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Source

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Identifiers

PMID: 28676720
DOI: 10.1038/s41598-017-03041-z
PMCID: PMC5496848

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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