Variant: rs281865563 

    present in Gene: PRICKLE1
    present in Chromosome: 12
    Position on Chromosome: 42468783
    Alleles of this Variant: C/T

rs281865563 in PRICKLE1 gene and Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia PMID 18976727 2008 A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

PMID 21276947 2011 Mutations in prickle orthologs cause seizures in flies, mice, and humans.