A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature

Véronique Bissay; Kathelijn Keymolen; Willy Lissens; Eric Schmedding; Jacques De Keyser

doi:10.1016/j.jns.2011.06.014

A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature

J Neurol Sci. 2011 Sep 15;308(1-2):162-4. doi: 10.1016/j.jns.2011.06.014. Epub 2011 Jul 14.

Authors

Véronique Bissay¹, Kathelijn Keymolen, Willy Lissens, Eric Schmedding, Jacques De Keyser

Affiliation

¹ Department of Neurology, UZ Brussel, Center for Neurosciences, Vrije universiteit Brussel (VUB), Brussels, Belgium. veronique.bissay@uzbrussel.be

PMID: 21752396
DOI: 10.1016/j.jns.2011.06.014

Abstract

One family is described with a novel SCN4A mutation, causing cold-aggravated myotonia without weakness. One affected family member had a normal needle electromyography at room temperature. Myotonic discharges were only discovered after cooling of the tested muscles.

Publication types

Case Reports

MeSH terms

Adult
Child
Cold Temperature / adverse effects*
Electromyography* / methods
Exercise Test / methods
Female
Humans
Male
Middle Aged
Mutation / genetics*
Myotonia / diagnosis*
Myotonia / genetics*
NAV1.4 Voltage-Gated Sodium Channel
Sodium Channels / genetics*

Substances

NAV1.4 Voltage-Gated Sodium Channel
SCN4A protein, human
Sodium Channels