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- Title
Advances in genetics of juvenile myoclonic epilepsies.
- Authors
Delgado-Escueta, Antonio V
- Abstract
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.
- Publication
Epilepsy currents, 2007, Vol 7, Issue 3, p61
- ISSN
1535-7597
- Publication type
Journal Article
- DOI
10.1111/j.1535-7511.2007.00171.x