MovDisordV3, Ncbi, Merge, bibRecord, 001C66

A novel GLRA1 mutation in a recessive hyperekplexia pedigree.

Identifieur interne : 001C66 ( Ncbi/Merge ); précédent : 001C65; suivant : 001C67

A novel GLRA1 mutation in a recessive hyperekplexia pedigree.

Auteurs : Rob J. Forsyth [Royaume-Uni] ; Artemis D. Gika ; Ieke Ginjaar ; Marina A J. Tijssen

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.

RBID : pubmed:17534957

English descriptors

KwdEn :
- Child, Child, Preschool, Cysteine (genetics), DNA Mutational Analysis, Female, Humans, Movement Disorders (genetics), Movement Disorders (physiopathology), Mutation (genetics), Pedigree, Receptors, Glycine (genetics), Reflex, Startle (genetics), Tyrosine (genetics).
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.

DOI: 10.1002/mds.21574
PubMed: 17534957

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to stream PubMed, to step Checkpoint: 002A10

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pubmed:17534957

Le document en format XML

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<affiliation wicri:level="3"><nlm:affiliation>Sir James Spence Institute, Royal Victoria Infirmary, Newcastle University, Newcastle upon Tyne NE1 4LP, and Paediatric Neurology Department, St George's Hospital, London, United Kingdom. r.j.forsyth@newcastle.ac.uk</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
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<author><name sortKey="Ginjaar, Ieke" sort="Ginjaar, Ieke" uniqKey="Ginjaar I" first="Ieke" last="Ginjaar">Ieke Ginjaar</name>
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<author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A J" last="Tijssen">Marina A J. Tijssen</name>
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<author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A J" last="Tijssen">Marina A J. Tijssen</name>
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<term>Female</term>
<term>Humans</term>
<term>Movement Disorders (genetics)</term>
<term>Movement Disorders (physiopathology)</term>
<term>Mutation (genetics)</term>
<term>Pedigree</term>
<term>Receptors, Glycine (genetics)</term>
<term>Reflex, Startle (genetics)</term>
<term>Tyrosine (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cysteine</term>
<term>Receptors, Glycine</term>
<term>Tyrosine</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Movement Disorders</term>
<term>Mutation</term>
<term>Reflex, Startle</term>
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<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Movement Disorders</term>
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<keywords scheme="MESH" xml:lang="en"><term>Child</term>
<term>Child, Preschool</term>
<term>DNA Mutational Analysis</term>
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<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.</div>
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<Issue>11</Issue>
<PubDate><Year>2007</Year>
<Month>Aug</Month>
<Day>15</Day>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>A novel GLRA1 mutation in a recessive hyperekplexia pedigree.</ArticleTitle>
<Pagination><MedlinePgn>1643-5</MedlinePgn>
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<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>Copyright (c) 2007 Movement Disorder Society.</CopyrightInformation>
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	Movement Disorders (revue)
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Movement Disorders (revue)

A novel GLRA1 mutation in a recessive hyperekplexia pedigree.

A novel GLRA1 mutation in a recessive hyperekplexia pedigree.

Source :

English descriptors

Abstract

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

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki