Developmental and epileptic encephalopathy, 42

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene.

Also known as CACNA1A early infantile epileptic encephalopathy, DEE42, developmental and epileptic encephalopathy 42, early infantile epileptic encephalopathy caused by mutation in CACNA1A, EIEE42, epileptic encephalopathy, early infantile, 42, epileptic encephalopathy, early infantile, 42; EIEE42, epileptic encephalopathy, early infantile, type 42 — per MONDO

Also identified as

• DOID 0080454 per MONDO
• OMIM 617106 per MONDO
• UMLS C4310716 per MONDO