developmental and epileptic encephalopathy 32

Term ID

DOID:0080416

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. https://www.ncbi.nlm.nih.gov/pubmed/25751627

References

• OMIM:616366

Ontology

Human Disease   ( DOID:0080416 )