Developmental and epileptic encephalopathy, 4
MONDO:0012812Early 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.
Also known as: DEE4, EIEE4, STXBP1 early infantile epileptic encephalopathy, STXBP1-related encephalopathy, developmental and epileptic encephalopathy 4, developmental and epileptic encephalopathy, 4, early infantile epileptic encephalopathy 4, early infantile epileptic encephalopathy caused by mutation in STXBP1
21 clinical trials for this condition and its sub-types.
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New epilepsy drug shows promise in long-term safety trial
Disease control CompletedThis study tested the long-term safety of a drug called LP352 (bexicaserin) in 41 people aged 12 to 65 with severe epilepsy syndromes like Dravet or Lennox-Gastaut. Participants took the drug three times daily for up to 52 weeks. The main goal was to check for side effects, while…
Phase: PHASE2 • Sponsor: Longboard Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 08:01 UTC
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New hope for rare seizure patients: Long-Term drug safety confirmed
Disease control CompletedThis study looked at the long-term safety of a drug called fenfluramine (ZX008) for people with rare seizure disorders like Dravet syndrome and Lennox-Gastaut syndrome. A total of 412 participants who had completed earlier studies took the drug and were monitored for side effects…
Phase: PHASE3 • Sponsor: Zogenix, Inc. • Aim: Disease control
Last updated Jun 27, 2026 07:58 UTC
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Routine EEGs may hold hidden clues to childhood epilepsy — a new analysis method is put to the test
Diagnosis CompletedThis study is testing whether a computer tool called BioEP can detect signs of seizure susceptibility in standard EEG recordings from children with epilepsy. Researchers will analyze past EEGs from 530 children aged 2 to 18 who already have an epilepsy diagnosis. The goal is to s…
Sponsor: Neuronostics Ltd • Aim: Diagnosis
Last updated Aug 01, 2026 00:00 UTC
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New parent support programme shows promise for families of children with complex needs
Symptom relief CompletedThis pilot study tested a community-based group programme called 'Encompass' for parents of children under 5 with complex neurodisability. Fifteen parents in East London attended ten group sessions over six months. The study aimed to see if the programme was feasible and acceptab…
Phase: NA • Sponsor: City, University of London • Aim: Symptom relief
Last updated Jun 27, 2026 12:05 UTC
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Walking analysis sheds light on rare genetic disorders
Knowledge-focused CompletedThis study looked at whether a special walking test (3D gait analysis) can help identify movement problems in people with rare genetic diseases like Tuberous Sclerosis and STXBP1. About 40 participants aged 6 and older who could walk without help took part. The goal was to see if…
Sponsor: Universiteit Antwerpen • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:31 UTC