Advances in genetics of juvenile myoclonic epilepsies.

@article{DelgadoEscueta2007AdvancesIG,
  title={Advances in genetics of juvenile myoclonic epilepsies.},
  author={Antonio V Delgado-Escueta},
  journal={Epilepsy currents},
  year={2007},
  volume={7 3},
  pages={
          61-7
        }
}
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… CONTINUE READING

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