Human genes for developmental and epileptic encephalopathy 47
Developmental and epileptic encephalopathy 47 [DOID:0080425]
A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28.
Synonyms: developmental and epileptic encephalopathy 47, DOID:0080425, DEE47, early infantile epileptic encephalopathy 47