developmental and epileptic encephalopathy, 4
Findings
No curated finding names developmental and epileptic encephalopathy, 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0012812), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
39 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- EEG with burst suppressionHPOHP:0010851
- 5 of 5 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 5 of 5 reported patients
- Cerebral atrophyHPOHP:0002059
- 4 of 5 reported patients
- Epileptic spasmHPOHP:0011097
- 4 of 5 reported patients
- Occasional (5% to 29% of cases)
- Spastic tetraplegiaHPOHP:0002510
- 4 of 5 reported patients
- Very rare (1% to 4% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- STXBP1HGNC:11444
- Definitive · Ambry Genetics · Autosomal recessive · 2020
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
9 names
Resolves to: developmental and epileptic encephalopathy, 4
- Also called
- DEE4developmental and epileptic encephalopathy 4early infantile epileptic encephalopathy 4early infantile epileptic encephalopathy caused by mutation in STXBP1EIEE4epileptic encephalopathy, early infantile, 4epileptic encephalopathy, early infantile, type 4STXBP1 early infantile epileptic encephalopathySTXBP1-related encephalopathy