Variant: rs12131800 

    present in Gene: CACNA1E
    present in Chromosome: 1
    Position on Chromosome: 181724499
    Alleles of this Variant: G/A;C

rs12131800 in CACNA1E gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 PMID 30343943 2018 De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.