Mondo Description Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene.

Uniprot Description A disease characterized by early-onset seizures, intellectual disability of varying degrees, and behavioral disturbances or autistic features in most individuals.

Disease Ontology Description An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12.