Journal
MOVEMENT DISORDERS
Volume 22, Issue 6, Pages 873-877Publisher
WILEY-LISS
DOI: 10.1002/mds.21350
Keywords
paroxysmal exercise-induced dystonia; epilepsy; absence; developmental delay; genetics
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Funding
- NIGMS NIH HHS [01GM0304] Funding Source: Medline
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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. (c) 2007 Movement Disorder Society.
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