developmental and epileptic encephalopathy 42

Term ID

DOID:0080454

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. https://www.ncbi.nlm.nih.gov/pubmed/27476654

References

• OMIM:617106

Ontology

Human Disease   ( DOID:0080454 )