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LGI1 and congenital myopathy are reported together in 1 article.
Gene
LGI1
- HGNC
- HGNC:6572
9articles
9mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Congenital myopathy
134articles
134mentions
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
1 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 | LGI1 | “Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital myopathy | “Furthermore, we report the first ADAM23 variant associated with lethal neonatal-onset epilepsy and myopathy.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | ADAM23 | “Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.” | 0.98 | hgnc_dict_v1 |
| 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 |