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WWOX and epilepsy are reported together in 6 articles.
Gene
WWOX
- HGNC
- HGNC:12799
6articles
6mentions
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
6 records shown · first 60Identification 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 | WWOX | “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 WWOX-related epileptic encephalopathy (WOREE) syndrome.
PMID 35792847 | DOI 10.1684/epd.2022.1444 · Epileptic disorders : international epilepsy journal with videotape · 2022 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | WWOX | “The human gene for WW domain-containing oxidoreductase (WWOX) has been associated with epileptic encephalopathy, which presents in infancy with seizures, psychomotor delay, microcephaly, and optic atrophy.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Epilepsy in patients with WWOX-related epileptic encephalopathy (WOREE) syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
Novel Homozygous Mutation in the WWOX Gene Causes Seizures and Global Developmental Delay: Report and Review.
PMID 30746283 | PMCID PMC6368664 | DOI 10.1515/tnsci-2018-0029 · Translational neuroscience · 2018 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | WWOX | “Novel Homozygous Mutation in the WWOX Gene Causes Seizures and Global Developmental Delay: Report and Review.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Novel Homozygous Mutation in the WWOX Gene Causes Seizures and Global Developmental Delay: Report and Review.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | FRA16D | “The WWOX gene has a WW domain containing oxidoreductase, which is located at the common fragile site FRA16D at chromosome 16q23.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Novel Homozygous Mutation in the WWOX Gene Causes Seizures and Global Developmental Delay: Report and Review.” | 0.98 | phenotype_alias_lexicon_v2 |
Severe CNS involvement in WWOX mutations: Description of five new cases.
PMID 26345274 | DOI 10.1002/ajmg.a.37363 · American journal of medical genetics. Part A · 2015 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | WWOX | “Severe CNS involvement in WWOX mutations: Description of five new cases.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “The clinical presentation included progressive microcephaly, early onset of spasticity in the first 3 months of life, intractable epilepsy, severe failure to thrive, and profound developmental delay.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “The clinical presentation included progressive microcephaly, early onset of spasticity in the first 3 months of life, intractable epilepsy, severe failure to thrive, and profound developmental delay.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “All the children were product of consanguineous marriages.” | 0.80 | saudi_context_rules_v1 |
The fragile site WWOX gene and the developing brain.
PMID 25416187 | PMCID PMC4935222 | DOI 10.1177/1535370214561952 · Experimental biology and medicine (Maywood, N.J.) · 2015 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | WWOX | “The fragile site WWOX gene and the developing brain.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “The neurologic phenotype of WWOX mutation includes seizures, ataxia, developmental delay, and spasticity of variable severity.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | FRA16D | “WWOX was cloned as a tumor suppressor gene mapping to chromosomal fragile site FRA16D.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “The neurologic phenotype of WWOX mutation includes seizures, ataxia, developmental delay, and spasticity of variable severity.” | 0.98 | phenotype_alias_lexicon_v2 |
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
PMID 24369382 | PMCID PMC3914474 | DOI 10.1093/brain/awt338 · Brain : a journal of neurology · 2014 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | WWOX | “The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “We previously localized a new form of recessive ataxia with generalized tonic-clonic epilepsy and mental retardation to a 19 Mb interval in 16q21-q23 by homozygosity mapping of a large consanguineous Saudi Arabian family. We also identified another highly conserved homozygous WWOX mutation changing glycine 372 to arginine in a second consanguineous family.” | 0.95 | saudi_context_rules_v1 |