RT Journal Article
SR Electronic
T1 Progressive myoclonus epilepsy of Unverricht‐Lundborg type
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 2384
OP 2384
DO 10.1212/WNL.43.11.2384
VO 43
IS 11
A1 A.-E. Lehesjoki
A1 R. Eldridge
A1 J. Eldridge
A1 B. J. Wilder
A1 A. de la Chapelle
YR 1993
UL http://n.neurology.org/content/43/11/2384.abstract
AB We describe clinical and molecular genetic data on a family from the United States in which four of five sibs are affected with progressive myoclonus epilepsy of Unverricht-Lundborg type. The gene for this disorder (EPM1) has previously been mapped to the distal region of chromosome 21. Molecular genetic results suggest that the disease gene in this family is linked to the same region of chromosome 21. Crossover events in the family help refine the gene localization by placing EPM1 between loci CBS and D21S112.