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, G., Striano, S., Barbieri, F., Striano, P., Perretti, A.C.A., Santoro, L., BRESCIA MORRA, V., Sacca', F., Scarano, V., D'Adamo, A.p., Banfi, S., Gasparini, P., Santorelli, F.m., Lehesjoki, A.e., Filla, A.. - 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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