Advances in Genetics of Juvenile Myoclonic Epilepsies-Reference-Cited by-同舟云学术

Advances in Genetics of Juvenile Myoclonic Epilepsies

Published:2007-05 Issue:3 Volume:7 Page:61-67
ISSN:1535-7597
Container-title:Epilepsy Currents
language:en
Short-container-title:Epilepsy Curr

Author:

Delgado-Escueta Antonio V.¹

Affiliation:

1. David Geffen School of Medicine at University of California, Los Angeles, Comprehensive Epilepsy Program, Epilepsy Genetics/Genomics Laboratories, VA Greater Los Angeles Healthcare System, West Los Angeles, CA

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.

Publisher

SAGE Publications

Subject

Clinical Neurology

Link

http://journals.sagepub.com/doi/pdf/10.1111/j.1535-7511.2007.00171.x

Reference53 articles.

1. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

2. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

3. Mutations in EFHC1 cause juvenile myoclonic epilepsy

4. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

5. Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

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