MovDisordV3, Main, Exploration, bibRecord, 001232

A New Hyperekplexia Family with a Recessive Frameshift Mutation in the GLRA1 Gene

Identifieur interne : 001232 ( Main/Exploration ); précédent : 001231; suivant : 001233

A New Hyperekplexia Family with a Recessive Frameshift Mutation in the GLRA1 Gene

Auteurs : Evelien Zoons [Pays-Bas] ; Ieke B. Ginjaar [Pays-Bas] ; Paul A. D. Bouma [Pays-Bas] ; Johannes A. Carpay [Pays-Bas] ; Marina A. J. Tijssen [Pays-Bas]

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:12-0248759

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Mutation cadre lecture, Hyperekplexie.

English descriptors

KwdEn :
- Frameshift mutation, Hyperekplexia, Nervous system diseases.

Abstract

Hyperekplexia (HPX) or startle disease is a rare neurological disease characterized by excessive startle reactions to unexpected stimuli, followed by short periods of generalized stiffness. At examination, a positive head retraction reflex (HRR) is considered a hallmark of HPX.¹ Clonazepam is the treatment of choice.² The alpha1 subunit of the glycine receptor (GLRA1) is the main gene for HPX.² We present a HPX family with a new autosomal recessive mutation in the GLRA1 gene and intrafamilial heterogeneity of symptoms.

Affiliations:

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

to stream PascalFrancis, to step Corpus: 000181
to stream PascalFrancis, to step Curation: 002B33
to stream PascalFrancis, to step Checkpoint: 000305
to stream Main, to step Merge: 001284
to stream Main, to step Curation: 001232

Le document en format XML

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<author><name sortKey="Zoons, Evelien" sort="Zoons, Evelien" uniqKey="Zoons E" first="Evelien" last="Zoons">Evelien Zoons</name>
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<s2>Amsterdam</s2>
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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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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">A New Hyperekplexia Family with a Recessive Frameshift Mutation in the GLRA1 Gene</title>
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<sZ>4 aut.</sZ>
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<series><title level="j" type="main">Movement disorders</title>
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<keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du   système nerveux</term>
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<front><div type="abstract" xml:lang="en">Hyperekplexia (HPX) or startle disease is a rare neurological disease characterized by excessive startle reactions to unexpected stimuli, followed by short periods of generalized stiffness. At examination, a positive head retraction reflex (HRR) is considered a hallmark of HPX.<sup>1</sup>
 Clonazepam is the treatment of choice.<sup>2</sup>
 The alpha1 subunit of the glycine receptor (GLRA1) is the main gene for HPX.<sup>2</sup>
 We present a HPX family with a new autosomal recessive mutation in the GLRA1 gene and intrafamilial heterogeneity of symptoms.</div>
</front>
</TEI>
<affiliations><list><country><li>Pays-Bas</li>
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<region><li>Hollande-Méridionale</li>
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<tree><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Zoons, Evelien" sort="Zoons, Evelien" uniqKey="Zoons E" first="Evelien" last="Zoons">Evelien Zoons</name>
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<name sortKey="Bouma, Paul A D" sort="Bouma, Paul A D" uniqKey="Bouma P" first="Paul A. D." last="Bouma">Paul A. D. Bouma</name>
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<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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	Movement Disorders (revue)
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Movement Disorders (revue)

A New Hyperekplexia Family with a Recessive Frameshift Mutation in the GLRA1 Gene

A New Hyperekplexia Family with a Recessive Frameshift Mutation 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