Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
About your search
ADAM22 and epilepsy are reported together in 2 articles.
Gene
ADAM22
- HGNC
- HGNC:201
4articles
4mentions
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 60Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.
PMID 40455867 | PMCID PMC12493049 | DOI 10.1093/brain/awaf202 · Brain : a journal of neurology · 2025 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ADAM22 | “LGI1 is a secreted neuronal protein, functions as a ligand for ADAM22/23, and regulates excitatory synaptic transmission and neuronal excitability in the brain.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Monoallelic pathogenic variants in LGI1 cause autosomal dominant epilepsy with auditory features with onset in childhood/adolescence.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | LGI1 | “Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.” | 0.98 | hgnc_dict_v1 |
| gene | ADAM23 | “Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.” | 0.98 | hgnc_dict_v1 |
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
PMID 35373813 | PMCID PMC9337806 | DOI 10.1093/brain/awac116 · Brain : a journal of neurology · 2022 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ADAM22 | “Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | LGI1 | “Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for the glycoprotein leucine-rich repeat glioma-inactivated protein 1 (LGI1), have been recently associated with recessive developmental and epileptic encephalopathy.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Additional clinical features included moderate to profound global developmental delay/intellectual disability (20/20), hypotonia (12/20) and delayed motor development (19/20).” | 0.98 | phenotype_alias_lexicon_v2 |