Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0070471 )
Relationships
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Genes Involved
Zebrafish Models