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Summary Literature (0)
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

In OMIM:
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)