Mondo Description Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.

Uniprot Description A disorder characterized by seizures associated with hypsarrhythmia, profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia.

Disease Ontology Description An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.