Human genes for developmental and epileptic encephalopathy 5
Developmental and epileptic encephalopathy 5 [DOID:0080438]
A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
Synonyms: developmental and epileptic encephalopathy 5, DOID:0080438, DEE5, early infantile epileptic encephalopathy 5