Term Name: early-onset epilepsy 2
Synonyms: early-onset epilepsy-2 with or without developmental delay, EPEO2
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.
Ontology: Human Disease [DOID:0070471]   ( DOID:0070471 )

Relationships
is a type of: autosomal dominant disease epilepsy