Term Name: | developmental and epileptic encephalopathy 32 |
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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 ) |