FRRS1L
HGNC:1362 · SaudiVarKB evidence summary derived from retained literature mentions.
5Gene mentions
5Publications
0Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in FRRS1L publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| epilepsy | HP:0001250 | 3 | 3 |
| intellectual disability | HP:0001249 | 1 | 1 |
Linked variants
Variants normalized to FRRS1L| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | 1,000 | 1 |
Supporting publications
5 records- 2023Continuous Spikes and Waves During Sleep (CSWS), Severe Epileptic Encephalopathy, and Choreoathetosis due to Mutations in FRRS1L.Clinical EEG and neurosciencePubMed ↗
- 2022Identification of epilepsy concomitant candidate genes recognized in Saudi epileptic patients.European review for medical and pharmacological sciencesPubMed ↗
- 2017AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.Nature communicationsPubMed ↗
- 2016Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.American journal of human geneticsPubMed ↗
- 2016Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L.Clinical geneticsPubMed ↗