MovDisordV3, Main, Exploration, bibRecord, 003054

A novel GLRA1 mutation in a recessive hyperekplexia pedigree

Identifieur interne : 003054 ( Main/Exploration ); précédent : 003053; suivant : 003055

A 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.

RBID : ISTEX:11AFC9875B48748B997EE445135F213223F1DCE6

Descripteurs français

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

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:

https://api.istex.fr/document/11AFC9875B48748B997EE445135F213223F1DCE6/fulltext/pdf

DOI: 10.1002/mds.21574

Affiliations:

Pays-Bas, Royaume-Uni

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">A novel GLRA1 mutation in a recessive hyperekplexia pedigree</title>
<author><name sortKey="Forsyth, Rob J" sort="Forsyth, Rob J" uniqKey="Forsyth R" first="Rob J." last="Forsyth">Rob J. Forsyth</name>
</author>
<author><name sortKey="Gika, Artemis D" sort="Gika, Artemis D" uniqKey="Gika A" first="Artemis D." last="Gika">Artemis D. Gika</name>
</author>
<author><name sortKey="Ginjaar, Ieke" sort="Ginjaar, Ieke" uniqKey="Ginjaar I" first="Ieke" last="Ginjaar">Ieke Ginjaar</name>
</author>
<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>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:11AFC9875B48748B997EE445135F213223F1DCE6</idno>
<date when="2007" year="2007">2007</date>
<idno type="doi">10.1002/mds.21574</idno>
<idno type="url">https://api.istex.fr/document/11AFC9875B48748B997EE445135F213223F1DCE6/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">003904</idno>
<idno type="wicri:Area/Istex/Curation">003904</idno>
<idno type="wicri:Area/Istex/Checkpoint">001B62</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Forsyth R:a:novel:glra</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:17534957</idno>
<idno type="wicri:Area/PubMed/Corpus">002673</idno>
<idno type="wicri:Area/PubMed/Curation">002673</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002A10</idno>
<idno type="wicri:Area/Ncbi/Merge">001C66</idno>
<idno type="wicri:Area/Ncbi/Curation">001C66</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001C66</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Forsyth R:a:novel:glra</idno>
<idno type="wicri:Area/Main/Merge">003F76</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:07-0448804</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001556</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001765</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001824</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Forsyth R:a:novel:glra</idno>
<idno type="wicri:Area/Main/Merge">004414</idno>
<idno type="wicri:Area/Main/Curation">003054</idno>
<idno type="wicri:Area/Main/Exploration">003054</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">A novel GLRA1 mutation in a recessive hyperekplexia pedigree</title>
<author><name sortKey="Forsyth, Rob J" sort="Forsyth, Rob J" uniqKey="Forsyth R" first="Rob J." last="Forsyth">Rob J. Forsyth</name>
<affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Sir James Spence Institute, Royal Victoria Infirmary, Newcastle University, Newcastle upon Tyne NE1 4LP</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne NE1 4LP</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gika, Artemis D" sort="Gika, Artemis D" uniqKey="Gika A" first="Artemis D." last="Gika">Artemis D. Gika</name>
<affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Paediatric Neurology Department, St George's Hospital, Tooting, London SW17 0QT</wicri:regionArea>
<wicri:noRegion>London SW17 0QT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ginjaar, Ieke" sort="Ginjaar, Ieke" uniqKey="Ginjaar I" first="Ieke" last="Ginjaar">Ieke Ginjaar</name>
<affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Center for Human and Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden</wicri:regionArea>
<wicri:noRegion>2300 RC Leiden</wicri:noRegion>
</affiliation>
</author>
<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>
<affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Neurology H2–237, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam</wicri:regionArea>
<wicri:noRegion>1100 DD Amsterdam</wicri:noRegion>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2007-08-15">2007-08-15</date>
<biblScope unit="vol">22</biblScope>
<biblScope unit="issue">11</biblScope>
<biblScope unit="page" from="1643">1643</biblScope>
<biblScope unit="page" to="1645">1645</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">11AFC9875B48748B997EE445135F213223F1DCE6</idno>
<idno type="DOI">10.1002/mds.21574</idno>
<idno type="ArticleID">MDS21574</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term>
<term>Child, Preschool</term>
<term>Cysteine (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>GLRA1</term>
<term>Glycine receptor</term>
<term>Humans</term>
<term>Hyperekplexia</term>
<term>Movement Disorders (genetics)</term>
<term>Movement Disorders (physiopathology)</term>
<term>Mutation</term>
<term>Mutation (genetics)</term>
<term>Nervous system diseases</term>
<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>
<keywords scheme="Pascal" xml:lang="fr"><term>Hyperekplexie</term>
<term>Mutation</term>
<term>Pedigree</term>
<term>Récepteur glycine</term>
<term>Système nerveux pathologie</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</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>
<affiliations><list><country><li>Pays-Bas</li>
<li>Royaume-Uni</li>
</country>
</list>
<tree><country name="Royaume-Uni"><noRegion><name sortKey="Forsyth, Rob J" sort="Forsyth, Rob J" uniqKey="Forsyth R" first="Rob J." last="Forsyth">Rob J. Forsyth</name>
</noRegion>
<name sortKey="Gika, Artemis D" sort="Gika, Artemis D" uniqKey="Gika A" first="Artemis D." last="Gika">Artemis D. Gika</name>
</country>
<country name="Pays-Bas"><noRegion><name sortKey="Ginjaar, Ieke" sort="Ginjaar, Ieke" uniqKey="Ginjaar I" first="Ieke" last="Ginjaar">Ieke Ginjaar</name>
</noRegion>
<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>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003054 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 003054 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:11AFC9875B48748B997EE445135F213223F1DCE6
   |texte=   A novel GLRA1 mutation in a recessive hyperekplexia pedigree
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

Movement Disorders (revue)

A novel GLRA1 mutation in a recessive hyperekplexia pedigree

A novel GLRA1 mutation in a recessive hyperekplexia pedigree

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)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.