Term Name: developmental and epileptic encephalopathy 32
Synonyms: DEE32, early infantile 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.
Ontology: Human Disease [DOID:0080416]   ( DOID:0080416 )

Relationships
is a type of: autosomal dominant disease developmental and epileptic encephalopathy