Variant: rs104893950 

    present in Gene: EPM2A
    present in Chromosome: 6
    Position on Chromosome: 145627691
    Alleles of this Variant: G/A;C

rs104893950 in EPM2A gene and Lafora Disease PMID 12019207 2002 Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

PMID 11175283 2000 In spite of this remarkable allelic heterogeneity, the R241stop EPM2A mutation was found in approximately 40% of the Lafora disease patients.

rs104893950 in EPM2A gene and Myoclonic Epilepsies, Progressive PMID 9771710 1998 Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

PMID 25246353 2014 Late onset Lafora disease and novel EPM2A mutations: breaking paradigms.

PMID 21623095 2011 Lafora disease: a case report, pathologic and genetic study.