developmental and epileptic encephalopathy, 4
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.
MONDO:0100135
Dravet syndrome
excluded_subClassOf
MONDO:0100062
genetic developmental and epileptic encephalopathy
is_a
DEE4
exact
EIEE4
exact
STXBP1 early infantile epileptic encephalopathy
exact
STXBP1-related early-onset encephalopathy
related
STXBP1-related encephalopathy
exact
developmental and epileptic encephalopathy 4
exact
developmental and epileptic encephalopathy, 4
exact
early infantile epileptic encephalopathy 4
exact
early infantile epileptic encephalopathy caused by mutation in STXBP1
exact
epileptic encephalopathy, early infantile, 4
exact
epileptic encephalopathy, early infantile, type 4
exact
SPCC584.05