Article

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy.
Journal of Neurology (Impact Factor: 3.84). 09/2005; 252(8):897-900. DOI: 10.1007/s00415-005-0766-3
Source: PubMed

ABSTRACT We describe two couples of sibs from a southern Italian family affected by epilepsy, myoclonus, mental retardation and slight ataxia. Onset was between 4 and 12 years and the course slowly progressive. The clinical picture suggested the diagnosis of Unverricht-Lundborg disease. Molecular study excluded linkage to EPM1. Other possible causes of progressive myoclonus epilepsy were also excluded.

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