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early-onset epilepsy 2
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease epilepsy
External Links
- Disease Ontology
- DOID:0070471
- Mondo Disease Ontology
- OMIM
