作者
Antonia Parmeggiani, Anna‐Elina Lehesjoki, Valerio Carelli, Annio Posar, Andrea Santi, Margherita Santucci, Giuseppe Gobbi, Antonella Pini, Paola Giovanardi Rossi
发表日期
1997/6
期刊
Epilepsia
卷号
38
期号
6
页码范围
637-641
出版商
Blackwell Publishing Ltd
简介
Purpose: Progressive myoclonus epilepsies (PMEs) are a clinically and etiologically heterogeneous group of disorders. The authors report clinical, neurophysi‐ological, and genetic findings of a family from Southern Italy with three members affected with PME.
Methods: All data about familial and personal antecedents, clinical history, neurologic examination, laboratory tests, neurophysiological findings, brain imaging studies, and DNA analysis were examined.
Results: All results were compatible with the features of Unverricht‐Lundborg disease and patients were homozygous for the “Finnish” ancestral haplotype.
Conclusions: Work is in progress to identify and characterize the common EPM1 mutation in the Finnish patients. Subsequently, it will be possible to verify the hypothesis on the existence of a common mutation in the Finnish patients and the Italian family under study, or even in other Mediterranean …
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