Mondo Description Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.

Uniprot Description A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. EIEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy.

Disease Ontology Description An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13.