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J Neurol. 2005 Aug;252(8):897-900. Epub 2005 Mar 8.

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

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1
Dipartimento di Scienze Neurologiche, UniversitĂ  degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy.

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.

PMID:
15742102
DOI:
10.1007/s00415-005-0766-3
[Indexed for MEDLINE]
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