Medline ® Abstract for Reference 13
of 'Juvenile myoclonic epilepsy'
13
TI
Advances in genetics of juvenile myoclonic epilepsies.
AU
Delgado-Escueta AV
SO
Epilepsy Curr. 2007;7(3):61.
One by one, mutation-containing mendelian genes that cause monogenic juvenile myoclonic epilepsies (JME) and single nucleotide polymorphisms (SNP)-susceptibility alleles that increase risks for nonmendelian complex JME should fall to the power of molecular genetics. Of 15 chromosome loci, 3 mendelian genes (alpha1-subunit of the GABA(A) receptor [GABRA1], chloride channel 2 gene [CLCN2], and Myoclonin1/EFHC1) and 2 SNP-susceptibility alleles of putative JME genes in epistases (bromodomain-containing protein 2 [BRD2]and connexin [Cx]-36) have been identified, so far. Antiepileptic drugs now can be designed against the specific molecular defects of JME.
AD
David Geffen School of Medicine, University of California Los Angeles Comprehensive Epilepsy Program, VA Greater Los Angeles Healthcare System West Los Angeles, CA, USA.
PMID