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.

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

DE MICHELE, GIUSEPPE;STRIANO, SALVATORE;BARBIERI, FABRIZIO;PERRETTI, ANNA CARMELA AGNESE;SANTORO, LUCIO;BRESCIA MORRA, VINCENZO;SACCA', FRANCESCO;FILLA, ALESSANDRO
2005

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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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/424672
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