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

V. Bissay; Kathelijn Keymolen; Willy Lissens; Eric Schmedding; Jacques De Keyser

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

V. Bissay, Kathelijn Keymolen, Willy Lissens, Eric Schmedding, Jacques De Keyser

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

Abstract

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

Original language	English
Pages (from-to)	162-164
Number of pages	3
Journal	J Neurol Sci
Volume	308
Publication status	Published - 14 Jul 2011

Keywords

myotonia
cold-aggravated
SCN4A
sodium channel
p.Arg1460Gln

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@article{366987dc6f6b4afba26dd9ced86a4e32,

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

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

keywords = "myotonia, cold-aggravated, SCN4A, sodium channel, p.Arg1460Gln",

author = "V. Bissay and Kathelijn Keymolen and Willy Lissens and Eric Schmedding and {De Keyser}, Jacques",

year = "2011",

month = jul,

day = "14",

language = "English",

volume = "308",

pages = "162--164",

journal = "J Neurol Sci",

issn = "0022-510X",

publisher = "Elsevier",

}

TY - JOUR

T1 - A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature

AU - Bissay, V.

AU - Keymolen, Kathelijn

AU - Lissens, Willy

AU - Schmedding, Eric

AU - De Keyser, Jacques

PY - 2011/7/14

Y1 - 2011/7/14

N2 - One family is described with a novel SCN4A mutation, causing cold-aggravated myotonia without weakness. One affected family memeber had a normal needle electromyography at room temperature. Myotonic discharges were only discovered after cooling of the tested muscles.

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

KW - myotonia

KW - cold-aggravated

KW - SCN4A

KW - sodium channel

KW - p.Arg1460Gln

M3 - Article

SN - 0022-510X

VL - 308

SP - 162

EP - 164

JO - J Neurol Sci

JF - J Neurol Sci

ER -

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

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Keywords

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