Variant: rs781379291 

    present in Gene: SLC1A2
    present in Chromosome: 11
    Position on Chromosome: 35292512
    Alleles of this Variant: G/A;C

rs781379291 in SLC1A2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 PMID 23107647 2012 A point mutation associated with episodic ataxia 6 increases glutamate transporter anion currents.

PMID 28777935 2017 De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

PMID 24214974 2013 Mutating a conserved proline residue within the trimerization domain modifies Na+ binding to excitatory amino acid transporters and associated conformational changes.