Gene: FRRS1L

Alternate names for this Gene: C9orf4|CG-6|CG6|DEE37|EIEE37

Gene Summary: This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37.

Gene is located in Chromosome: 9

Location in Chromosome : 9q31.3

Description of this Gene: ferric chelate reductase 1 like

Type of Gene: protein-coding

rs878853280 in FRRS1L gene and Chorea PMID 27236917 2016 Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

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.

rs878853280 in FRRS1L gene and Progressive encephalopathy PMID 27236917 2016 Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

rs878853280 in FRRS1L gene and Seizures PMID 27236917 2016 Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.