Mondo Description Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene.

Uniprot Description A severe neurologic disorder characterized by onset of seizures in the first months of life and usually associated with EEG abnormalities. Affected infants have convulsive seizures (hemiclonic or generalized) that are often prolonged and triggered by fever. Other seizure types include focal, myoclonic, absence seizures, and drop attacks. Development is normal in the first year of life with later slowing and intellectual disability.

Disease Ontology Description An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34.