Inherited myoclonus-dystonia and epilepsy: further evidence of an association?
Identifieur interne : 000F60 ( Ncbi/Merge ); précédent : 000F59; suivant : 000F61Inherited 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 LynchSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.
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...)
- to stream PubMed, to step Corpus: 003328
- to stream PubMed, to step Curation: 003328
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pubmed:15389977Le document en format XML
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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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<term>Dystonia (complications)</term>
<term>Dystonia (genetics)</term>
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<term>Epilepsy (complications)</term>
<term>Epilepsy (diagnosis)</term>
<term>Epilepsy (genetics)</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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