Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

被引：0

作者：

Giovanni Coppola

Chiara Criscuolo

Giuseppe De Michele

Salvatore Striano

Fabrizio Barbieri

Pasquale Striano

Anna Perretti

Lucio Santoro

Vincenzo Brescia Morra

Francesco Saccà

Valentina Scarano

Adamo P. D’Adamo

Sandro Banfi

Paolo Gasparini

Filippo M. Santorelli

Anna E. Lehesjoki

Alessandro Filla

机构：

[1] Università degli Studi di Napoli Federico II,Dipartimento di Scienze Neurologiche

[2] Telethon Institute of Genetics and Medicine,Dept. of Medical Genetics

[3] La Sapienza University,undefined

[4] University of Helsinki,undefined

来源：

Journal of Neurology | 2005年 / 252卷

关键词：

epilepsy; myoclonus; ataxia; mental retardation;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

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.

引用

页码：897 / 900

页数：3

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