A novel GLRA1 mutation in a recessive hyperekplexia pedigree
Identifieur interne : 003054 ( Main/Curation ); précédent : 003053; suivant : 003055A novel GLRA1 mutation in a recessive hyperekplexia pedigree
Auteurs : Rob J. Forsyth [Royaume-Uni] ; Artemis D. Gika [Royaume-Uni] ; Ieke Ginjaar [Pays-Bas] ; Marina A. J. Tijssen [Pays-Bas]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-08-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Child, Child, Preschool, Cysteine (genetics), DNA Mutational Analysis, Female, GLRA1, Glycine receptor, Humans, Hyperekplexia, Movement Disorders (genetics), Movement Disorders (physiopathology), Mutation, Mutation (genetics), Nervous system diseases, Pedigree, Receptors, Glycine (genetics), Reflex, Startle (genetics), Tyrosine (genetics), glycine receptor, hyperekplexia.
- MESH :
- chemical , genetics : Cysteine, Receptors, Glycine, Tyrosine.
- genetics : Movement Disorders, Mutation, Reflex, Startle.
- physiopathology : Movement Disorders.
- Child, Child, Preschool, DNA Mutational Analysis, Female, Humans, Pedigree.
Abstract
We report the identification of a novel Y228C mutation within the M1 trans‐membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21574
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<term>Pedigree</term>
<term>Receptors, Glycine (genetics)</term>
<term>Reflex, Startle (genetics)</term>
<term>Tyrosine (genetics)</term>
<term>glycine receptor</term>
<term>hyperekplexia</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cysteine</term>
<term>Receptors, Glycine</term>
<term>Tyrosine</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Movement Disorders</term>
<term>Mutation</term>
<term>Reflex, Startle</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Movement Disorders</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Child</term>
<term>Child, Preschool</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Humans</term>
<term>Pedigree</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
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</teiHeader>
<front><div type="abstract" xml:lang="en">We report the identification of a novel Y228C mutation within the M1 trans‐membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree. © 2007 Movement Disorder Society</div>
</front>
</TEI>
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