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  • Title: New family with paroxysmal exercise-induced dystonia and epilepsy.
    Author: Kamm C, Mayer P, Sharma M, Niemann G, Gasser T.
    Journal: Mov Disord; 2007 Apr 30; 22(6):873-7. PubMed ID: 17290464.
    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.
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