Human genes for developmental and epileptic encephalopathy 4
Developmental and epileptic encephalopathy 4 [DOID:0080436]
A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1.
Synonyms: developmental and epileptic encephalopathy 4, DOID:0080436, DEE4, early infantile epileptic encephalopathy 4