Developmental and epileptic encephalopathy, 45

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene.

Also known as DEE45, developmental and epileptic encephalopathy 45, early infantile epileptic encephalopathy caused by mutation in GABRB1, EIEE45, epileptic encephalopathy, early infantile, 45, epileptic encephalopathy, early infantile, 45; EIEE45, epileptic encephalopathy, early infantile, type 45, GABRB1 early infantile epileptic encephalopathy — per MONDO

Also identified as

• DOID 0080428 per MONDO
• OMIM 617153 per MONDO
• UMLS C4310691 per MONDO