Infantile convulsions and choreoathetosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) | C1865926 | PRRT2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 22101681, 22120146, 22131361, 22209761, 22243967, 22399141, 22744660, 22832103, 26598493, 27172900 | - |
| SCN8A | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 26677014 | - |