New family with paroxysmal exercise-induced dystonia and epilepsy.
Identifieur interne : 001B09 ( Ncbi/Curation ); précédent : 001B08; suivant : 001B10New family with paroxysmal exercise-induced dystonia and epilepsy.
Auteurs : Christoph Kamm [Allemagne] ; Petra Mayer ; Manu Sharma ; Gerhard Niemann ; Thomas GasserSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- 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.
DOI: 10.1002/mds.21350
PubMed: 17290464
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002830
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :002830
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :002690
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :001B09
Links to Exploration step
pubmed:17290464Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">New family with paroxysmal exercise-induced dystonia and epilepsy.</title><author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tubingen, Tubingen</wicri:regionArea><wicri:noRegion>Tubingen</wicri:noRegion><wicri:noRegion>Tubingen</wicri:noRegion><wicri:noRegion>Tubingen</wicri:noRegion></affiliation></author><author><name sortKey="Mayer, Petra" sort="Mayer, Petra" uniqKey="Mayer P" first="Petra" last="Mayer">Petra Mayer</name></author><author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name></author><author><name sortKey="Niemann, Gerhard" sort="Niemann, Gerhard" uniqKey="Niemann G" first="Gerhard" last="Niemann">Gerhard Niemann</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21350</idno><idno type="RBID">pubmed:17290464</idno><idno type="pmid">17290464</idno><idno type="wicri:Area/PubMed/Corpus">002830</idno><idno type="wicri:Area/PubMed/Curation">002830</idno><idno type="wicri:Area/PubMed/Checkpoint">002690</idno><idno type="wicri:Area/Ncbi/Merge">001B09</idno><idno type="wicri:Area/Ncbi/Curation">001B09</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">New family with paroxysmal exercise-induced dystonia and epilepsy.</title><author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tubingen, Tubingen</wicri:regionArea><wicri:noRegion>Tubingen</wicri:noRegion><wicri:noRegion>Tubingen</wicri:noRegion><wicri:noRegion>Tubingen</wicri:noRegion></affiliation></author><author><name sortKey="Mayer, Petra" sort="Mayer, Petra" uniqKey="Mayer P" first="Petra" last="Mayer">Petra Mayer</name></author><author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name></author><author><name sortKey="Niemann, Gerhard" sort="Niemann, Gerhard" uniqKey="Niemann G" first="Gerhard" last="Niemann">Gerhard Niemann</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Child</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 2</term><term>Epilepsy (etiology)</term><term>Epilepsy (genetics)</term><term>Exercise</term><term>Exercise Tolerance</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Movement Disorders (etiology)</term><term>Movement Disorders (genetics)</term><term>Pedigree</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Epilepsy</term><term>Movement Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Epilepsy</term><term>Movement Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Child</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 2</term><term>Exercise</term><term>Exercise Tolerance</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><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.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001B09 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 001B09 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Ncbi
|étape= Curation
|type= RBID
|clé= pubmed:17290464
|texte= New family with paroxysmal exercise-induced dystonia and epilepsy.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:17290464" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |