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.