DOID:0080416 - developmental and epileptic encephalopathy 32
Disease Ontology 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.
Synonyms: DEE32, early infantile epileptic encephalopathy 32
|OMIM:616366 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32; DEE32|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : kcna2
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a)