SCN1A
HGNC:10585 · SaudiVarKB evidence summary derived from retained literature mentions.
12Gene mentions
12Publications
6Linked variants
5Associated phenotypes
Associated phenotypes
Co-mentioned in SCN1A publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| epilepsy | HP:0001250 | 11 | 11 |
| diabetes mellitus | — | 1 | 1 |
| Parkinson disease | — | 1 | 1 |
| developmental delay | HP:0001263 | 1 | 1 |
| colorectal cancer | — | 1 | 1 |
Linked variants
Variants normalized to SCN1A| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.1212A>G | c.1212A>G | 1 | 1 |
| p.Val404Ile | p.Val404Ile | 1 | 1 |
| c.78_79insG | c.78_79insG | 1 | 1 |
| rs6432861 | rs6432861 | 1 | 1 |
| c.1498C>T | c.1498C>T | 1 | 1 |
| p.Arg500Trp | p.Arg500Trp | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
| Not specified | — | 0 | 1 |
| Saudi Arabia | — | 10 | 1 |
| Not specified | — | 14 | 1 |
| Saudi Arabia | — | 296 | 1 |
| Saudi Arabia | — | 44 | 1 |
| Saudi Arabia | — | 45 | 1 |
| Saudi Arabia | — | 30 | 1 |
Supporting publications
12 records- 2025Stiripentol safety profile and efficacy in cases of SCN1A-related Dravet syndrome, multi-center experience, Saudi Arabia.Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 2024Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi patient with Dravet syndrome carrying homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A.Human cell1 mentions
- 2024Clinical description and evaluation of 30 pediatric patients with ultra-rare diseases: A multicenter study with real-world data from Saudi Arabia.PloS one1 mentions
- 2024De novo SCN1A missense variant in a patient with Parkinson's disease.Frontiers in genetics1 mentions
- 2023Genotype-Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital.Children (Basel, Switzerland)1 mentions
- 2023Assessment of Biochemical and Neuroactivities of Cultural Filtrate from Trichoderma harzianum in Adjusting Electrolytes and Neurotransmitters in Hippocampus of Epileptic Rats.Life (Basel, Switzerland)1 mentions
- 2022SUDEP risk and autonomic dysfunction in genetic epilepsies.Autonomic neuroscience : basic & clinical1 mentions
- 2022Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.Annals of medicine1 mentions
- 2022Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy.Frontiers in pediatrics1 mentions
- 2017Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features.Epilepsia1 mentions
- 2016Reflex Seizures Triggered by Diaper Change in Dravet Syndrome.The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques1 mentions
- 2013Dravet syndrome, what is new?Neurosciences (Riyadh, Saudi Arabia)1 mentions