has material basis in germline mutation in STXBP1 developmental and epileptic encephalopathy, 4 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/7693 https://rarediseases.info.nih.gov/diseases/12900/early-infantile-epileptic-encephalopathy-4 https://www.malacards.org/card/developmental_and_epileptic_encephalopathy_4 STXBP1 early infantile epileptic encephalopathy UMLS:C2677326 GARD:0012900 OMIM:612164 NCIT:C162472 developmental and epileptic encephalopathy 4 STXBP1-related encephalopathy early infantile epileptic encephalopathy 4 epileptic encephalopathy, early infantile, type 4 EIEE4 developmental and epileptic encephalopathy, 4 MONDO:0012812 DOID:0080436 SCTID:768666006 MESH:C567404 DEE4 epileptic encephalopathy, early infantile, 4 MEDGEN:436917 Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition. Orphanet:599373 STXBP1-related early-onset encephalopathy early infantile epileptic encephalopathy caused by mutation in STXBP1 genetic developmental and epileptic encephalopathy Dravet syndrome