MovDisordV3, Main, Exploration, bibRecord, 002D18

New family with paroxysmal exercise‐induced dystonia and epilepsy

Identifieur interne : 002D18 ( Main/Exploration ); précédent : 002D17; suivant : 002D19

New family with paroxysmal exercise‐induced dystonia and epilepsy

Auteurs : Christoph Kamm [Allemagne] ; Petra Mayer [Allemagne] ; Manu Sharma [Allemagne] ; Gerhard Niemann [Allemagne] ; Thomas Gasser [Allemagne]

Source :

Movement Disorders [ 0885-3185 ] ; 2007-04-30.

RBID : ISTEX:BAEE0AD92A34D5DD2D15632D3EB4A6AE15DB11FF

Descripteurs français

Pascal (Inist)
- Dystonie, Epilepsie, Exercice physique, Système nerveux pathologie, Trouble développement.

English descriptors

KwdEn :
- Adolescent, Adult, Aged, Child, Chromosome Mapping, Chromosomes, Human, Pair 2, Developmental disorder, Dystonia, Epilepsy, Epilepsy (etiology), Epilepsy (genetics), Exercise, Exercise Tolerance, Female, Humans, Male, Middle Aged, Movement Disorders (etiology), Movement Disorders (genetics), Nervous system diseases, Pedigree, Physical exercise, absence, developmental delay, epilepsy, genetics, paroxysmal exercise‐induced dystonia.
MESH :
- etiology : Epilepsy, Movement Disorders.
- genetics : Epilepsy, Movement Disorders.
- Adolescent, Adult, Aged, Child, Chromosome Mapping, Chromosomes, Human, Pair 2, Exercise, Exercise Tolerance, Female, Humans, Male, Middle Aged, Pedigree.

Abstract

To date, there are few reports of paroxysmal exercise‐induced dystonia associated with familial epilepsy. We describe a family with 4 affected members spanning 3 generations, suggestive of autosomal‐dominant inheritance, who exhibited typical exercise‐induced dystonia, different types of epilepsy (absence and primary generalized seizures), developmental delay, and migraine in variable combinations. Linkage of the disease to loci on chromosome 2 (paroxysmal nonkinesigenic dyskinesia) and chromosome 16 (paroxysmal kinesigenic choreoathetosis, infantile convulsions with choreoathetosis) was excluded, suggesting an as yet unidentified underlying genetic basis. © 2007 Movement Disorder Society

Url:

https://api.istex.fr/document/BAEE0AD92A34D5DD2D15632D3EB4A6AE15DB11FF/fulltext/pdf

DOI: 10.1002/mds.21350

Affiliations:

Allemagne

Le document en format XML

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<front><div type="abstract" xml:lang="en">To date, there are few reports of paroxysmal exercise‐induced dystonia associated with familial epilepsy. We describe a family with 4 affected members spanning 3 generations, suggestive of autosomal‐dominant inheritance, who exhibited typical exercise‐induced dystonia, different types of epilepsy (absence and primary generalized seizures), developmental delay, and migraine in variable combinations. Linkage of the disease to loci on chromosome 2 (paroxysmal nonkinesigenic dyskinesia) and chromosome 16 (paroxysmal kinesigenic choreoathetosis, infantile convulsions with choreoathetosis) was excluded, suggesting an as yet unidentified underlying genetic basis. © 2007 Movement Disorder Society</div>
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Movement Disorders (revue)

New family with paroxysmal exercise‐induced dystonia and epilepsy

New family with paroxysmal exercise‐induced dystonia and epilepsy

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.