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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

MIM:618832

Synonyms

EPEO2 [EXACT]

Parent Relationships

is_a epilepsy

is_a autosomal dominant disease

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