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KCNJ10 and epilepsy are reported together in 5 articles.
Gene
KCNJ10
- HGNC
- HGNC:6256
5articles
5mentions
5variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
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
5 records shown · first 60Association of Voltage-Gated Potassium Channel Polymorphisms with the Risk and Prognosis of Epilepsy in the Saudi Population: A Case-Control Study.
PMID 40142207 | PMCID PMC11943637 | DOI 10.3390/medicina61030396 · Medicina (Kaunas, Lithuania) · 2025 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNJ10 | “In addition, regarding the KCNJ10 gene, we found that rs2820585, rs946420, rs1186679, rs61822012, and rs1186685 were significantly correlated with epilepsy risk (p-values = 0.034, 0.045, 0.021, 0.048, and 0.018), respectively.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Association of Voltage-Gated Potassium Channel Polymorphisms with the Risk and Prognosis of Epilepsy in the Saudi Population: A Case-Control Study.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | KCNAB1 | “Results: This study revealed that within KCNAB1, both rs3755631 and rs4679773 are correlated with epilepsy, and the p-values = 0.04 for both allelic associations.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Association of Voltage-Gated Potassium Channel Polymorphisms with the Risk and Prognosis of Epilepsy in the Saudi Population: A Case-Control Study. This case-control study was conducted on 296 individuals who were diagnosed with epilepsy, in addition to 293 healthy participants.” | 0.95 | saudi_context_rules_v1 |
Identification of epilepsy concomitant candidate genes recognized in Saudi epileptic patients.
PMID 35363364 | DOI 10.26355/eurrev_202203_28362 · European review for medical and pharmacological sciences · 2022 · 43 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNJ10 | “Several genes' mutations were incorporated in this review including AFG3L2, ASPM, ATN1, ATP1A2, BMP5, CCDC88A, C12orf57, DNAJA1, EML1, ERLIN2, FRRS1L, GABRG3, NRXN3, MDH1, KCNJ10, KCNMA1, KCNT1, KIAA0226, OPHN1, PCCA, PCCB, PEX, PGAP2, PI4K2A, PODXL, PRICKLE1, PNKP, RELN, SCN2A, SCN1B, SLC2A1, SLC19A3, SLC25, SIAH1, SYNJ1, SZT2, TBCK, TMX2, TSC1, TSC2, TSEN, WDR45B, WWOX, UBR, UGDH, and YIF1B.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Identification of epilepsy concomitant candidate genes recognized in Saudi epileptic patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | AFG3L2 | “Several genes' mutations were incorporated in this review including AFG3L2, ASPM, ATN1, ATP1A2, BMP5, CCDC88A, C12orf57, DNAJA1, EML1, ERLIN2, FRRS1L, GABRG3, NRXN3, MDH1, KCNJ10, KCNMA1, KCNT1, KIAA0226, OPHN1, PCCA, PCCB, PEX, PGAP2, PI4K2A, PODXL, PRICKLE1, PNKP, RELN, SCN2A, SCN1B, SLC2A1, SLC19A3, SLC25, SIAH1, SYNJ1, SZT2, TBCK, TMX2, TSC1, TSC2, TSEN, WDR45B, WWOX, UBR, UGDH, and YIF1B.” | 0.98 | hgnc_dict_v1 |
| gene | ASPM | “Several genes' mutations were incorporated in this review including AFG3L2, ASPM, ATN1, ATP1A2, BMP5, CCDC88A, C12orf57, DNAJA1, EML1, ERLIN2, FRRS1L, GABRG3, NRXN3, MDH1, KCNJ10, KCNMA1, KCNT1, KIAA0226, OPHN1, PCCA, PCCB, PEX, PGAP2, PI4K2A, PODXL, PRICKLE1, PNKP, RELN, SCN2A, SCN1B, SLC2A1, SLC19A3, SLC25, SIAH1, SYNJ1, SZT2, TBCK, TMX2, TSC1, TSC2, TSEN, WDR45B, WWOX, UBR, UGDH, and YIF1B.” | 0.98 | hgnc_dict_v1 |
Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10.
PMID 30952461 | DOI 10.1016/j.braindev.2019.03.009 · Brain & development · 2019 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNJ10 | “Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hearing loss | “OBJECTIVE: EAST syndrome comprises of epilepsy, ataxia, sensorineural deafness, and tubulopathy.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | c.170C>T | “All our five patients have the same homozygous c.170C>T (p.Thr57Ile) missense mutation in KCNJ10 gene.” | 0.95 | hgvs_regex_v1 |
Corrigendum to "Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10" [Brain Dev 2019].
PMID 31331637 | DOI 10.1016/j.braindev.2019.06.007 · Brain & development · 2019 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNJ10 | “Corrigendum to "Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10" [Brain Dev 2019].” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Corrigendum to "Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10" [Brain Dev 2019].” | 0.98 | phenotype_alias_lexicon_v2 |
Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.
PMID 28747464 | PMCID PMC5646198 | DOI 10.1152/jn.00284.2017 · Journal of neurophysiology · 2017 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNJ10 | “Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | KCNT1 | “Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “A 2-yr-old boy presented profound developmental delay, failure to thrive, ataxia, hypotonia, and tonic-clonic seizures that caused the death of the patient.” | 0.98 | phenotype_alias_lexicon_v2 |