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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

MIM:616366

Synonyms

DEE32 [EXACT]

early infantile epileptic encephalopathy 32 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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