Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Get in touch with RARE Concierge.

Contact RARE Concierge

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Synonyms: Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. Ā© INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

Newly diagnosed with
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.