Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene
Identifieur interne : 003325 ( Istex/Corpus ); précédent : 003324; suivant : 003326Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene
Auteurs : Eliecer Coto ; Daniel Armenta ; Raúl Espinosa ; Joaquín Argente ; M Nica G. Castro ; Victoria AlvarezSource :
- Movement Disorders [ 0885-3185 ] ; 2005-12.
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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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DOI: 10.1002/mds.20637
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