Term Name: developmental and epileptic encephalopathy 42
Synonyms: DEE42, early infantile epileptic encephalopathy 42
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.
Ontology: Human Disease [DOID:0080454]   ( DOID:0080454 )

Relationships
is a type of: autosomal dominant disease developmental and epileptic encephalopathy