BENIGN ADULT FAMILIAL MYOCLONUS EPILEPSY (BAFME) - AN AUTOSOMAL-DOMINANT FORM NOT LINKED TO THE DENTATORUBRAL PALLIDOLUYSIAN ATROPHY (DRPLA) GENE

Authors
KUWANO A TAKAKUBO F MORIMOTO Y UYAMA E UCHINO M ANDO M YASUDA T TERAO A HAYAMA T KOBAYASHI R KONDO I
Citation
A. Kuwano et al., BENIGN ADULT FAMILIAL MYOCLONUS EPILEPSY (BAFME) - AN AUTOSOMAL-DOMINANT FORM NOT LINKED TO THE DENTATORUBRAL PALLIDOLUYSIAN ATROPHY (DRPLA) GENE, Journal of Medical Genetics, 33(1), 1996, pp. 80-81
Citations number
10
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
33
Issue
1
Year of publication
1996
Pages
80 - 81
Database
ISI
SICI code
0022-2593(1996)33:1<80:BAFME(>2.0.ZU;2-P
Abstract
The genetic differences between two types of dominant inherited myoclo nus epilepsy, dentatorubral pallidoluysian atrophy (DRPLA) and benign adult familial myoclonus epilepsy (BAFME), have been reported. A gene with a CAG repeat expansion responsible for DRPLA has been isolated. W e have examined CAG repeat expansion in the DRPLA gene in five BAFME f amilies, and the abnormal CAG expansion was not observed in the affect ed subjects. Linkage analysis using DNA polymorphisms in the DRPLA gen e and the genes for gamma-aminobutyric acid (GABA) receptor subunits, GABAR beta 1, GABAR beta 3, and GABAR alpha 6, showed that these genes were not responsible for BAFME.