Visualize Submit Comment

Metadata
ID	DOID:0080454
Name	developmental and 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. https://www.ncbi.nlm.nih.gov/pubmed/27476654
Xrefs	OMIM:617106
Synonyms	DEE42 [EXACT] early infantile epileptic encephalopathy 42 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease