Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene
- 2 August 2005
- journal article
- case report
- Published by Wiley in Movement Disorders
- Vol. 20 (12), 1626-1629
- https://doi.org/10.1002/mds.20637
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 SocietyKeywords
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