MovDisordV3, Ncbi, Merge, bibRecord, 000F60

Inherited myoclonus-dystonia and epilepsy: further evidence of an association?

Identifieur interne : 000F60 ( Ncbi/Merge ); précédent : 000F59; suivant : 000F61

Inherited myoclonus-dystonia and epilepsy: further evidence of an association?

Auteurs : Sean O'Riordan [Irlande (pays)] ; Laurie J. Ozelius ; Patricia De Carvalho Aguiar ; Michael Hutchinson ; Mary King ; Tim Lynch

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.

RBID : pubmed:15389977

English descriptors

KwdEn :
- Adolescent, Adult, Child, Chromatography, Gas, Codon, Nonsense (genetics), Dystonia (complications), Dystonia (genetics), Electroencephalography, Epilepsy (complications), Epilepsy (diagnosis), Epilepsy (genetics), Exons (genetics), Female, Gene Expression, Humans, Male, Myoclonus (complications), Myoclonus (genetics), Pedigree, Phenotype, Sarcoglycans (genetics).
MESH :
- chemical , genetics : Codon, Nonsense, Sarcoglycans.
- complications : Dystonia, Epilepsy, Myoclonus.
- diagnosis : Epilepsy.
- genetics : Dystonia, Epilepsy, Exons, Myoclonus.
- Adolescent, Adult, Child, Chromatography, Gas, Electroencephalography, Female, Gene Expression, Humans, Male, Pedigree, Phenotype.

Abstract

Epilepsy and electroencephalogram (EEG) abnormalities have been considered exclusion criteria for the clinical diagnosis of myoclonus-dystonia (M-D). We report on the second M-D family in which several clinically affected epsilon-sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may form part of the phenotypic spectrum of the condition. A nonsense mutation in exon 3 (289C-->T) of SGCE resulting in the insertion of a premature stop codon (R97X) was detected in affected members of this family.

DOI: 10.1002/mds.20224
PubMed: 15389977

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

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to stream PubMed, to step Checkpoint: 003433

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pubmed:15389977

Le document en format XML

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<author><name sortKey="O Riordan, Sean" sort="O Riordan, Sean" uniqKey="O Riordan S" first="Sean" last="O'Riordan">Sean O'Riordan</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, St. Vincent's University Hospital, Dublin, Ireland. seanorior1@eircom.net</nlm:affiliation>
<country xml:lang="fr">Irlande (pays)</country>
<wicri:regionArea>Department of Neurology, St. Vincent's University Hospital, Dublin</wicri:regionArea>
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<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name>
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<author><name sortKey="De Carvalho Aguiar, Patricia" sort="De Carvalho Aguiar, Patricia" uniqKey="De Carvalho Aguiar P" first="Patricia" last="De Carvalho Aguiar">Patricia De Carvalho Aguiar</name>
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<author><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name>
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<author><name sortKey="King, Mary" sort="King, Mary" uniqKey="King M" first="Mary" last="King">Mary King</name>
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<author><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name>
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<term>Codon, Nonsense (genetics)</term>
<term>Dystonia (complications)</term>
<term>Dystonia (genetics)</term>
<term>Electroencephalography</term>
<term>Epilepsy (complications)</term>
<term>Epilepsy (diagnosis)</term>
<term>Epilepsy (genetics)</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Gene Expression</term>
<term>Humans</term>
<term>Male</term>
<term>Myoclonus (complications)</term>
<term>Myoclonus (genetics)</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Sarcoglycans (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Codon, Nonsense</term>
<term>Sarcoglycans</term>
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<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonia</term>
<term>Epilepsy</term>
<term>Myoclonus</term>
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<term>Child</term>
<term>Chromatography, Gas</term>
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<front><div type="abstract" xml:lang="en">Epilepsy and electroencephalogram (EEG) abnormalities have been considered exclusion criteria for the clinical diagnosis of myoclonus-dystonia (M-D). We report on the second M-D family in which several clinically affected epsilon-sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may form part of the phenotypic spectrum of the condition. A nonsense mutation in exon 3 (289C-->T) of SGCE resulting in the insertion of a premature stop codon (R97X) was detected in affected members of this family.</div>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Inherited myoclonus-dystonia and epilepsy: further evidence of an association?

Inherited myoclonus-dystonia and epilepsy: further evidence of an association?

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