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Focal 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.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Updated Jul 25, 2026
Recent research highlights that focal epilepsy may be a new phenotype associated with FUS-related amyotrophic lateral sclerosis (ALS). This discovery could enhance understanding of the disease's spectrum and inform future research directions.