Variant: rs587777307

present in Gene: GABRA1 present in Chromosome: 5 Position on Chromosome: 161890945 Alleles of this Variant: G/A

rs587777307 in GABRA1 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.