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 / Coppola, G; Criscuolo, C; DE MICHELE, Giuseppe; Striano, Salvatore; Barbieri, Fabrizio; Striano, P; Perretti, ANNA CARMELA AGNESE; Santoro, Lucio; BRESCIA MORRA, Vincenzo; Sacca', Francesco; Scarano, V; D'Adamo, Ap; Banfi, S; Gasparini, P; Santorelli, Fm; Lehesjoki, Ae; Filla, Alessandro. - In: JOURNAL OF NEUROLOGY. - ISSN 0340-5354. - STAMPA. - 252:(2005), pp. 897-900. [10.1007/s00415-005-0766-3]
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.| File | Dimensione | Formato | |
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