Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 persistance into adult life is observed. Disease data Classification Disease Synonyms Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Padaczka ogniskowa - niepełnosprawność intelektualna - dyzartria - ataksja ORPHA code 352587 OMIM code - ICD10 code Q04.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl