Advances in Genetics of Juvenile Myoclonic Epilepsies
- 7 May 2007
- journal article
- Published by SAGE Publications in Epilepsy Currents
- Vol. 7 (3), 61-67
- https://doi.org/10.1111/j.1535-7511.2007.00171.x
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 (α1-subunit of the GABAA 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.Keywords
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