Variant: rs104894743 

    present in Gene: ARX
    present in Chromosome: X
    Position on Chromosome: 25012937
    Alleles of this Variant: G/A

rs104894743 in ARX gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 12376946 2002 Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.

PMID 11889467 2002 Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.