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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
42 clinical trials for this condition and its sub-types.
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Real-World study tracks Epidyolex's Long-Term impact on seizures
Disease control OngoingThis study follows 158 people in France who are prescribed Epidyolex (a cannabidiol-based medicine) for seizures as part of their normal care. Researchers will track how long people stay on the treatment, side effects, seizure frequency, and changes in daily functioning and quali…
Sponsor: Jazz Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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Could a urea cycle drug help kids with rare epilepsy?
Disease control OngoingThis early-phase trial is testing whether glycerol phenylbutyrate (Ravicti), a drug already approved for a different condition, is safe and tolerable for children with genetic disorders like STXBP1 and SLC6A1 that cause seizures and developmental delays. The study will enroll 50 …
Phase: EARLY_PHASE1 • Sponsor: Weill Medical College of Cornell University • Aim: Disease control
Last updated Jun 27, 2026 08:12 UTC
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New drug LP352 aims to control seizures in severe epilepsy over the long term
Disease control ENROLLING_BY_INVITATIONThis phase 3 study is testing the long-term safety and effectiveness of LP352 (Bexicaserin) in 324 children and adults with developmental and epileptic encephalopathy (DEE), including Dravet and Lennox-Gastaut syndromes. Participants who completed earlier studies will receive LP3…
Phase: PHASE3 • Sponsor: Longboard Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 08:08 UTC
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AI boosts brain scan accuracy in massive new trial
Diagnosis ENROLLING_BY_INVITATIONThis study tests whether an AI tool can help radiologists read brain CT and MRI scans more accurately and quickly. Researchers will compare how well doctors, AI alone, and doctors using AI together can spot abnormalities, urgent findings, and classify diseases. The goal is to red…
Sponsor: Yaou Liu • Aim: Diagnosis
Last updated Jun 27, 2026 11:00 UTC
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Virtual reality could calm anxious kids with autism at the dentist
Symptom relief ENROLLING_BY_INVITATIONThis study tests whether wearing a virtual reality (VR) headset during dental treatment can reduce fear and stress in children with mild intellectual disabilities or autism spectrum disorder. Two hundred children aged 6 to 12 will either receive standard dental care or use a VR h…
Phase: NA • Sponsor: Semmelweis University • Aim: Symptom relief
Last updated Jun 27, 2026 14:02 UTC
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Robot suit helps kids with movement disorders take steps at home
Symptom relief OngoingThis study tests a wearable robotic exoskeleton called EXPLORER in 15 children with movement problems from conditions like cerebral palsy. The goal is to see if it helps them walk better in their everyday environments, such as home and the community. The study focuses on safety, …
Phase: NA • Sponsor: MarsiBionics • Aim: Symptom relief
Last updated Jun 27, 2026 07:51 UTC
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300 volunteers help create medical image bank for science
Knowledge-focused OngoingThis study gathers MRI, CT, and ultrasound images from 300 adults—some healthy, some with kidney or brain disease—to build a collection for future not-for-profit research. No new treatments are being tested; the goal is to make medical images available to scientists for advancing…
Sponsor: Mario Negri Institute for Pharmacological Research • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:28 UTC