developmental and epileptic encephalopathy 24

Term ID

DOID:0080429

Synonyms

• DEE24
• early infantile epileptic encephalopathy 24

Definition

A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12. (2)

References

• OMIM:615871

Ontology

Human Disease   ( DOID:0080429 )