p.Thr422Ala
p.Thr422Ala · SaudiVarKB evidence summary derived from retained literature mentions.
7Variant mentions
7Publications
1Associated gene records
1Associated phenotype records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| SLC19A3 | HGNC:16266 | 7 | 7 |
Associated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| epilepsy | HP:0001250 | 3 | 3 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 2 | 2 |
| Saudi Arabia | — | 1 | 1 |
| Saudi Arabia | Cohort 13 | 1 | 1 |
| Saudi Arabia | Cohort 3,000 | 1 | 1 |
| Population record | Cohort 89 | 1 | 1 |
Supporting publications
7 records- 2024Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-responsive Basal Ganglia Disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene.Human cell1 mentions
- 2023Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.Orphanet journal of rare diseases1 mentions
- 2023Developing of Biotin-Thiamine Responsive Basal Ganglia Disease after Accidental Ingestion of Ethyl Alcohol: A Case Report.Journal of epilepsy research1 mentions
- 2022Beyond the caudate nucleus: Early atypical neuroimaging findings in biotin-thiamine- responsive basal ganglia disease.Brain & development1 mentions
- 2019Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.Annals of clinical and translational neurology1 mentions
- 2017Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.Neurological research1 mentions
- 2016A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?Medicine1 mentions