| Metadata | |
|---|---|
| ID | DOID:0070471 |
| Name | early-onset epilepsy 2 |
| Definition | An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2. https://pubmed.ncbi.nlm.nih.gov/31197650/ |
| Xrefs | |
| SKOS |
exactMatch MIM:618832 |
| Synonyms |
EPEO2 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a epilepsy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance existence starts during some (Infantile onset or Neonatal onset or Childhood onset) |