early-onset epilepsy 2

Term ID

DOID:0070471

Synonyms

• 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. https://pubmed.ncbi.nlm.nih.gov/31197650/

References

• MIM:618832

Ontology

Human Disease   ( DOID:0070471 )