Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
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.
PMID 30525197
2019 Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.