DISEASES

Disease-gene associations mined from literature

Human genes for developmental and epileptic encephalopathy 24

Developmental and epileptic encephalopathy 24 [DOID:0080429]

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.

Synonyms:  developmental and epileptic encephalopathy 24,  DOID:0080429,  DEE24,  early infantile epileptic encephalopathy 24