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Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene

✍ Scribed by Eliecer Coto; Daniel Armenta; Raúl Espinosa; Joaquín Argente; Mónica G. Castro; Victoria Alvarez

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
65 KB
Volume
20
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

Hyperekplexia is commonly familial and with dominant transmission. The gene involved, GLRA1, encodes the α1 subunit of the glycine receptor. We describe 3 affected children homozygous for a new mutation, R100H. Both parents were heterozygous carriers; while the father was healthy, the mother has periodic limb movements during sleep. This suggests that Hys‐100 could exhibit incomplete penetrance, but was linked to a severe classical form of hyperekplexia in homozygous. © 2005 Movement Disorder Society

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