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.
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页码：897 / 900
页数：3
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