Generalized epilepsy-paroxysmal dyskinesia syndrome
MONDO:0012276Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.
Also known as: GEPD, PNKD3, epilepsy, generalized, with paroxysmal dyskinesia, generalised epilepsy and paroxysmal dyskinesia, generalized epilepsy and paroxysmal dyskinesia, paroxysmal nonkinesigenic dyskinesia, 3, with or without generalised epilepsy, paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
10 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
-
New inhaler aims to halt seizures in seconds
Disease control Recruiting nowThis Phase 3 trial tests a single inhaled dose of alprazolam (a fast-acting sedative) to stop prolonged seizures in people aged 12 and older. The goal is to see if it can end a seizure within 90 seconds and prevent it from coming back for at least 2 hours. About 350 participants …
Phase: PHASE3 • Sponsor: UCB Biopharma SRL • Aim: Disease control
Last updated Jul 03, 2026 00:00 UTC
-
Rehearsal and sleep: unlocking memory secrets in epilepsy
Knowledge-focused Recruiting nowThis study investigates how rehearsal (repeating information) and sleep help solidify memories in people with epilepsy. Participants learn object-location pairs, with some pairs rehearsed and others not, and their memory is tested after a short delay and again after 12 hours—eith…
Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:03 UTC
-
New study tracks how epilepsy affects Kids' brains over time
Knowledge-focused Recruiting nowThis study follows 2,300 children with epilepsy to see how their thinking and learning abilities change over many years. Researchers will track brain development, seizure control, and quality of life. The goal is to find early signs that predict how a child's cognitive skills wil…
Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:33 UTC
-
Seizure aftermath: Brain's attention networks under the microscope
Knowledge-focused Recruiting nowThis study looks at how a focal seizure (a seizure starting in one part of the brain) temporarily changes a person's ability to pay attention. Researchers will test 100 adults with epilepsy before and after a seizure using attention tasks and brain wave recordings. The goal is to…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:25 UTC
-
Hunting for hidden genetic triggers of severe childhood epilepsy
Knowledge-focused Recruiting nowThis study aims to find genetic mutations in the brain that cause drug-resistant epilepsy in children. Researchers will compare DNA from blood and brain tissue, including samples from special electrodes placed in the brain. The goal is to better understand the root causes of thes…
Sponsor: Fondation Ophtalmologique Adolphe de Rothschild • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:09 UTC
-
Massive global study aims to crack the code of rare childhood brain disorders
Knowledge-focused Recruiting nowThis study collects information from 500 children worldwide who have both epilepsy and movement disorders caused by specific gene changes. Researchers will analyze medical records to find patterns linking symptoms to genetics. The goal is to create a shared database that helps do…
Sponsor: Boston Children's Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:02 UTC
-
Super MRI scans aim to unlock secrets of brain resilience
Knowledge-focused Recruiting nowThis study uses powerful MRI scanners to look at the brains and spinal cords of 700 people, including healthy volunteers and those with conditions like multiple sclerosis, Alzheimer's, and Parkinson's. The goal is to understand why some brains stay healthy while others decline. R…
Sponsor: Assistance Publique Hopitaux De Marseille • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC