Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
MONDO:0018125Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed.
Also known as: focal epilepsy-intellectual disability-dysarthria-ataxia syndrome
6 clinical trials for this condition and its sub-types.
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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
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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
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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