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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Paroxysmal dyskinesias in childhood.

We report on clinical features of a large series of patients with paroxysmal dyskinesias. Fourteen patients had paroxysmal kinesigenic dyskinesia, with a mean age at onset of 7.1 years. In thirteen children the condition was idiopathic and nine of them had a positive family history; the remaining one had a Chiari malformation. Response to antiepileptic drugs was good in 60% of the treated patients. Six children had paroxysmal non-kinesigenic dyskinesia, with a mean age at onset of 8.1 years. Five children were symptomatic because of cerebral palsy (two patients), basal ganglia stroke (one patient), and acute inflammatory encephalopathy (one patient); the remaining patient's condition was familial with autosomal-dominant mode of inheritance. Response to medical treatment was unsuccessful contrasting with paroxysmal kinesigenic dyskinesia. Six children had paroxysmal exercise-induced dyskinesia, with a mean age at onset of 5 years. Their condition was idiopathic, with a positive family history in four. Two of these patients had also rolandic epilepsy and writer's cramp, and the syndrome had been previously mapped to chromosome 16. Although there have been great advances in the genetics of paroxysmal dyskinesias in which an ion channel dysfunction has been hypothesized, the diagnosis is still based on clinical grounds. The precise classification of the patients with paroxysmal dyskinesias is important for therapeutic decisions.[1]


  1. Paroxysmal dyskinesias in childhood. Zorzi, G., Conti, C., Erba, A., Granata, T., Angelini, L., Nardocci, N. Pediatric neurology. (2003) [Pubmed]
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