Variant: rs1054228594 

    present in Gene: FRRS1L
    present in Chromosome: 9
    Position on Chromosome: 109137616
    Alleles of this Variant: G/A

rs1054228594 in FRRS1L gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 PMID 27239025 2016 Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L.

PMID 27236917 2016 Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.