PROGRESSIVE MYOCLONUS EPILEPSY OF UNVERRICHT-LUNDBORG TYPE - A CLINICAL AND MOLECULAR-GENETIC STUDY OF A FAMILY FROM THE UNITED-STATES WITH4 AFFECTED SIBS

Authors
LEHESJOKI AE ELDRIDGE R ELDRIDGE J WILDER BJ DELACHAPELLE A
Citation
Ae. Lehesjoki et al., PROGRESSIVE MYOCLONUS EPILEPSY OF UNVERRICHT-LUNDBORG TYPE - A CLINICAL AND MOLECULAR-GENETIC STUDY OF A FAMILY FROM THE UNITED-STATES WITH4 AFFECTED SIBS, Neurology, 43(11), 1993, pp. 2384-2386
Citations number
10
Categorie Soggetti
Clinical Neurology
Journal title
Neurology → ACNP
ISSN journal
00283878
Volume
43
Issue
11
Year of publication
1993
Pages
2384 - 2386
Database
ISI
SICI code
0028-3878(1993)43:11<2384:PMEOUT>2.0.ZU;2-2
Abstract
We describe clinical and molecular genetic data on a family from the U nited States in which four of five sibs are affected with progressive myoclonus epilepsy of Unverricht-Lundborg type. The gene for this diso rder (EPM1) has previously been mapped to the distal region of chromos ome 21. Molecular genetic results suggest that the disease gene in thi s family is linked to the same region of chromosome 21. Crossover even ts in the family help refine the gene localization by placing EPM1 bet ween loci CBS and D21S112.