Visualize Submit Comment

Metadata
ID	DOID:0080416
Name	developmental and epileptic encephalopathy 32
Definition	A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13. https://www.ncbi.nlm.nih.gov/pubmed/25751627
Xrefs	OMIM:616366
Synonyms	DEE32 [EXACT] early infantile epileptic encephalopathy 32 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease