Variant: rs137852776 

    present in Gene: EFHC1
    present in Chromosome: 6
    Position on Chromosome: 52452799
    Alleles of this Variant: T/C

rs137852776 in EFHC1 gene and Juvenile Myoclonic Epilepsy PMID 15258581 2004 Mutations in EFHC1 cause juvenile myoclonic epilepsy.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 17634063 2007 Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

PMID 28370826 2017 Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.

PMID 22727576 2012 Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.

PMID 22926142 2012 Here, we show that JME mutations, including F229L, do not alter the ability of EFHC1 to colocalize with the centrosome and the mitotic spindle, but act in a dominant-negative manner to impair mitotic spindle organization.

PMID 22690745 2012 The mutation, Phe229Leu in the EFHC1 gene was previously shown, in a carrier state, to be associated with juvenile myoclonic epilepsy.