MovDisordV3, Main, Exploration, bibRecord, 003765

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

Identifieur interne : 003765 ( Main/Exploration ); précédent : 003764; suivant : 003766

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

Auteurs : Eliecer Coto [Espagne] ; Daniel Armenta [Espagne] ; Raúl Espinosa [Espagne] ; Joaquín Argente [Espagne] ; M Nica G. Castro [Espagne] ; Victoria Alvarez [Espagne]

Source :

Movement Disorders [ 0885-3185 ] ; 2005-12.

RBID : ISTEX:7F08F4C9BE8093E047841474595C7D3664CD5826

Descripteurs français

Pascal (Inist)
- Hyperekplexie, Mutation, Récepteur glycine, Système nerveux pathologie.

English descriptors

KwdEn :
- Adolescent, Arginine (genetics), DNA Mutational Analysis (methods), Family Health, Female, Glycine receptor, Histidine (genetics), Humans, Hyperekplexia, Male, Mutation, Nervous system diseases, Receptors, Glycine (genetics), Reflex, Abnormal (genetics), genetics, glycine receptor, hyperekplexia.
MESH :
- chemical , genetics : Arginine, Histidine, Receptors, Glycine.
- genetics : Reflex, Abnormal.
- methods : DNA Mutational Analysis.
- Adolescent, Family Health, Female, Humans, Male, Mutation.

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

Url:

https://api.istex.fr/document/7F08F4C9BE8093E047841474595C7D3664CD5826/fulltext/pdf

DOI: 10.1002/mds.20637

Affiliations:

Espagne

Le document en format XML

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<front><div type="abstract" xml:lang="en">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</div>
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Movement Disorders (revue)

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

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

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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