MovDisordV3, PascalFrancis, Corpus, bibRecord, 001F83

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

Identifieur interne : 001F83 ( PascalFrancis/Corpus ); précédent : 001F82; suivant : 001F84

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

Auteurs : Sean O'Riordan ; Laurie J. Ozelius ; Patricia De Carvalho Aguiar ; Michael Hutchinson ; Mary King ; Tim Lynch

Source :

Movement disorders [ 0885-3185 ] ; 2004.

RBID : Pascal:05-0070197

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Myoclonie, Dystonie, Epilepsie, Contrôle moteur.

English descriptors

KwdEn :
- Dystonia, Epilepsy, Motor control, Myoclonus, Nervous system diseases.

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 ∈-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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08	`01`	`1`	`ENG`	`@1 Inherited myoclonus-dystonia and epilepsy: Further evidence of an association?`
A11	`01`	`1`		`@1 O'RIORDAN (Sean)`
A11	`02`	`1`		`@1 OZELIUS (Laurie J.)`
A11	`03`	`1`		`@1 DE CARVALHO AGUIAR (Patricia)`
A11	`04`	`1`		`@1 HUTCHINSON (Michael)`
A11	`05`	`1`		`@1 KING (Mary)`
A11	`06`	`1`		`@1 LYNCH (Tim)`
A14	`01`			`@1 Departments of Neurology, St. Vincent's University Hospital @2 Dublin @3 IRL @Z 1 aut. @Z 4 aut.`
A14	`02`			`@1 Department of Molecular Genetics, Albert Einstein College of Medicine @2 New York, New York @3 USA @Z 2 aut. @Z 3 aut.`
A14	`03`			`@1 Temple Street Children's Hospital @2 Dublin @3 IRL @Z 5 aut.`
A14	`04`			`@1 Mater Misericordiae Hospital @2 Dublin @3 IRL @Z 6 aut.`
A20				`@1 1456-1459`
A21				`@1 2004`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000125735400110`
A44				`@0 0000 @1 © 2005 INIST-CNRS. All rights reserved.`
A45				`@0 15 ref.`
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C01	`01`		`ENG`	@0 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 ∈-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.
C02	`01`	`X`		`@0 002B17`
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C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Myoclonie @5 04`
C03	`02`	`X`	`ENG`	`@0 Myoclonus @5 04`
C03	`02`	`X`	`SPA`	`@0 Mioclonia @5 04`
C03	`03`	`X`	`FRE`	`@0 Dystonie @5 07`
C03	`03`	`X`	`ENG`	`@0 Dystonia @5 07`
C03	`03`	`X`	`SPA`	`@0 Distonía @5 07`
C03	`04`	`X`	`FRE`	`@0 Epilepsie @5 10`
C03	`04`	`X`	`ENG`	`@0 Epilepsy @5 10`
C03	`04`	`X`	`SPA`	`@0 Epilepsia @5 10`
C03	`05`	`X`	`FRE`	`@0 Contrôle moteur @5 25`
C03	`05`	`X`	`ENG`	`@0 Motor control @5 25`
C03	`05`	`X`	`SPA`	`@0 Control motor @5 25`
C07	`01`	`X`	`FRE`	`@0 Mouvement involontaire @5 37`
C07	`01`	`X`	`ENG`	`@0 Involuntary movement @5 37`
C07	`01`	`X`	`SPA`	`@0 Movimiento involuntario @5 37`
C07	`02`	`X`	`FRE`	`@0 Trouble neurologique @5 38`
C07	`02`	`X`	`ENG`	`@0 Neurological disorder @5 38`
C07	`02`	`X`	`SPA`	`@0 Trastorno neurológico @5 38`
C07	`03`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 39`
C07	`03`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 39`
C07	`03`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 39`
C07	`04`	`X`	`FRE`	`@0 Muscle strié pathologie @5 40`
C07	`04`	`X`	`ENG`	`@0 Striated muscle disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Músculo estriado patología @5 40`
C07	`05`	`X`	`FRE`	`@0 Encéphale pathologie @5 41`
C07	`05`	`X`	`ENG`	`@0 Cerebral disorder @5 41`
C07	`05`	`X`	`SPA`	`@0 Encéfalo patología @5 41`
C07	`06`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 42`
C07	`06`	`X`	`ENG`	`@0 Central nervous system disease @5 42`
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Format Inist (serveur)

NO :	PASCAL 05-0070197 INIST
ET :	Inherited myoclonus-dystonia and epilepsy: Further evidence of an association?
AU :	O'RIORDAN (Sean); OZELIUS (Laurie J.); DE CARVALHO AGUIAR (Patricia); HUTCHINSON (Michael); KING (Mary); LYNCH (Tim)
AF :	Departments of Neurology, St. Vincent's University Hospital/Dublin/Irlande (1 aut., 4 aut.); Department of Molecular Genetics, Albert Einstein College of Medicine/New York, New York/Etats-Unis (2 aut., 3 aut.); Temple Street Children's Hospital/Dublin/Irlande (5 aut.); Mater Misericordiae Hospital/Dublin/Irlande (6 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2004; Vol. 19; No. 12; Pp. 1456-1459; Bibl. 15 ref.
LA :	Anglais
EA :	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 ∈-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.
CC :	002B17; 002B17A03; 002B17H
FD :	Système nerveux pathologie; Myoclonie; Dystonie; Epilepsie; Contrôle moteur
FG :	Mouvement involontaire; Trouble neurologique; Extrapyramidal syndrome; Muscle strié pathologie; Encéphale pathologie; Système nerveux central pathologie
ED :	Nervous system diseases; Myoclonus; Dystonia; Epilepsy; Motor control
EG :	Involuntary movement; Neurological disorder; Extrapyramidal syndrome; Striated muscle disease; Cerebral disorder; Central nervous system disease
SD :	Sistema nervioso patología; Mioclonia; Distonía; Epilepsia; Control motor
LO :	INIST-20953.354000125735400110
ID :	05-0070197

Links to Exploration step

Pascal:05-0070197

Le document en format XML

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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 ∈-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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<server><NO>PASCAL 05-0070197 INIST</NO>
<ET>Inherited myoclonus-dystonia and epilepsy: Further evidence of an association?</ET>
<AU>O'RIORDAN (Sean); OZELIUS (Laurie J.); DE CARVALHO AGUIAR (Patricia); HUTCHINSON (Michael); KING (Mary); LYNCH (Tim)</AU>
<AF>Departments of Neurology, St. Vincent's University Hospital/Dublin/Irlande (1 aut., 4 aut.); Department of Molecular Genetics, Albert Einstein College of Medicine/New York, New York/Etats-Unis (2 aut., 3 aut.); Temple Street Children's Hospital/Dublin/Irlande (5 aut.); Mater Misericordiae Hospital/Dublin/Irlande (6 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2004; Vol. 19; No. 12; Pp. 1456-1459; Bibl. 15 ref.</SO>
<LA>Anglais</LA>
<EA>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 ∈-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.</EA>
<CC>002B17; 002B17A03; 002B17H</CC>
<FD>Système nerveux pathologie; Myoclonie; Dystonie; Epilepsie; Contrôle moteur</FD>
<FG>Mouvement involontaire; Trouble neurologique; Extrapyramidal syndrome; Muscle strié pathologie; Encéphale pathologie; Système nerveux central pathologie</FG>
<ED>Nervous system diseases; Myoclonus; Dystonia; Epilepsy; Motor control</ED>
<EG>Involuntary movement; Neurological disorder; Extrapyramidal syndrome; Striated muscle disease; Cerebral disorder; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Mioclonia; Distonía; Epilepsia; Control motor</SD>
<LO>INIST-20953.354000125735400110</LO>
<ID>05-0070197</ID>
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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?

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