developmental and epileptic encephalopathy 42 (DOID:0080454)
Alliance: disease page
Synonyms: DEE42; early infantile epileptic encephalopathy 42
Alt IDs: OMIM:617106
Definition: A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13.