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Neurogenetics
Published in: neurogenetics 4/2016

01-10-2016 | Short Communication

A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia

Authors: Tiago A. Mestre, Andreea Manole, Heather MacDonald, Sheila Riazi, Natalia Kraeva, Michael G. Hanna, Anthony E. Lang, Roope Männikkö, Grace Yoon

Published in: Neurogenetics | Issue 4/2016

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Abstract

Episodic ataxia type 1 (EA1) is an autosomal dominant channelopathy caused by mutations in KCNA1, which encodes the voltage-gated potassium channel, Kv1.1. Eleven members of an EA family were evaluated with molecular and functional studies. A novel c.746T>G (p.Phe249Cys) missense mutation of KCNA1 segregated in the family members with episodic ataxia, myokymia, and malignant hyperthermia susceptibility. No mutations were found in the known malignant hyperthermia genes RYR1 or CACNA1S. The Phe249Cys-Kv1.1 channels did not show any currents upon functional expression, confirming a pathogenic role of the mutation. Malignant hyperthermia may be a presentation of KCNA1 mutations, which has significant implications for the clinical care of these patients and illustrates the phenotypic heterogeneity of KCNA1 mutations.
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Metadata
Title
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia
Authors
Tiago A. Mestre
Andreea Manole
Heather MacDonald
Sheila Riazi
Natalia Kraeva
Michael G. Hanna
Anthony E. Lang
Roope Männikkö
Grace Yoon
Publication date
01-10-2016
Publisher
Springer Berlin Heidelberg
Published in
Neurogenetics / Issue 4/2016
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI
https://doi.org/10.1007/s10048-016-0486-0

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