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ATP1A3 and epilepsy are reported together in 2 articles.
Gene
ATP1A3
- HGNC
- HGNC:801
5articles
5mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Epilepsy
- HPO
- HP:0001250
2,084articles
2,084mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60Clinical description and evaluation of 30 pediatric patients with ultra-rare diseases: A multicenter study with real-world data from Saudi Arabia.
PMID 39024300 | PMCID PMC11257271 | DOI 10.1371/journal.pone.0307454 · PloS one · 2024 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ATP1A3 | “Other mutations included SZT2, ROGDI, PRF1, ATP1A3, and SHANK3.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Twenty-nine patients experienced seizures with GTC being the most frequently reported semiology.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | SCN1A | “SCN1A mutation was reported among 19 patients.” | 0.98 | hgnc_dict_v1 |
| gene | SZT2 | “Other mutations included SZT2, ROGDI, PRF1, ATP1A3, and SHANK3.” | 0.98 | hgnc_dict_v1 |
Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.
PMID 37482377 | PMCID PMC10519661 | DOI 10.17712/nsj.2023.3.20220131 · Neurosciences (Riyadh, Saudi Arabia) · 2023 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ATP1A3 | “OBJECTIVES: To describe the complex phenotype of ATP1A3 and second to report new mutation of ATP1A3.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “All had some degree of intellectual dysfunction, 6 had seizures (85%), 4 had neurologic abnormalities, 1 had autistic features and one had mild dystonia.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Riyadh | “METHODS: This is a retrospective chart review of 7 patients who was diagnosed with ATP1A3 mutation based on whole exome sequencing (WES) result and the following information were collected; age, age of onset, developmental ability, seizure type, family history, MRI, WES report. The data collection started a year ago January 2021 in King Faisal Specialist Hospital and Research Centre, Riyadh, KSA.” | 0.80 | saudi_context_rules_v1 |