Developmental and epileptic encephalopathy, 5

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.

Also known as DEE5, developmental and epileptic encephalopathy 5, early infantile epileptic encephalopathy caused by mutation in SPTAN1, EIEE5, epileptic encephalopathy, early infantile, 5, epileptic encephalopathy, early infantile, type 5, SPTAN1 early infantile epileptic encephalopathy — per MONDO

Also identified as

• DOID 0080438 per MONDO
• OMIM 613477 per MONDO
• UMLS C3150731 per MONDO