Developmental and epileptic encephalopathy, 12
MONDO:0013389An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.
Also known as: DEE12, EIEE12, PLCB1 early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 12, developmental and epileptic encephalopathy, 12, early infantile epileptic encephalopathy 12, early infantile epileptic encephalopathy caused by mutation in PLCB1, epileptic encephalopathy, early infantile, 12
16 clinical trials for this condition and its sub-types.
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New hope for Hard-to-Treat seizures: phase 3 trial launches
Disease control OngoingThis study tests an experimental drug called LP352 to see if it can safely reduce seizures in children and adults with developmental and epileptic encephalopathies (DEE), a group of severe epilepsy syndromes. About 320 participants will receive either LP352 or a placebo, and rese…
Phase: PHASE3 • Sponsor: Longboard Pharmaceuticals • Aim: Disease control
Last updated Aug 14, 2026 00:00 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 Aug 14, 2026 00:00 UTC
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New hope for kids with rare epilepsy: drug trial targets seizure control
Disease control OngoingThis study tests an investigational drug called relutrigine in 160 children with a severe form of epilepsy called developmental and epileptic encephalopathy (DEE). The goal is to see if the drug can safely reduce monthly seizure frequency compared to a placebo. After the initial …
Phase: PHASE3 • Sponsor: Praxis Precision Medicines • Aim: Disease control
Last updated Aug 06, 2026 00:00 UTC
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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 inhaler aims to stop prolonged seizures fast and safely
Symptom relief ENROLLING_BY_INVITATIONThis study tests the long-term safety of an inhaled medication called Staccato alprazolam for people aged 12 and older who have prolonged seizures. About 300 participants will use the inhaler when a seizure starts to see if it stops the seizure quickly and without serious side ef…
Phase: PHASE3 • Sponsor: UCB Biopharma SRL • Aim: Symptom relief
Last updated Aug 16, 2026 00:00 UTC