Familial Unverricht-Lundborg disease: a clinical, neurophysiologic, and genetic study

Epilepsia
A ParmeggianiP G Rossi

Abstract

Progressive myoclonus epilepsies (PMEs) are a clinically and etiologically heterogeneous group of disorders. The authors report clinical, neurophysiological, and genetic findings of a family from Southern Italy with three members affected with PME. All data about familial and personal antecedents, clinical history, neurologic examination, laboratory tests, neurophysiological findings, brain imaging studies, and DNA analysis were examined. All results were compatible with the features of Unverricht-Lundborg disease and patients were homozygous for the "Finnish" ancestral haplotype. 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 EPM1 families.

References

May 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·A E LehesjokiA de la Chapelle
Jul 1, 1991·Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society·S F BerkovicF Andermann
Oct 1, 1994·Journal of Child Neurology·J Aicardi
Oct 1, 1994·Journal of Child Neurology·P JayakarT J Resnick

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Citations

Sep 28, 2007·Comprehensive Therapy·Ugochi Ajulaoke Erondu, Tyler Childs Cymet
Apr 21, 1998·Seminars in Pediatric Neurology·R D Sheth
Mar 8, 2008·Epilepsia·Reetta KälviäinenEsa Mervaala
Dec 15, 2006·Journal of the Neurological Sciences·S SinhaS K Shankar
Jul 26, 2013·The International Journal of Neuroscience·Miljana KecmanovićStanka Romac

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