Details of Disease

General Information of Disease (ID: DISJ7OT6)

• Disease Name: Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
• Synonyms: focal epilepsy-intellectual disability-dysarthria-ataxia syndrome
• 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 Hierarchy:
  DIS80GDF: Monogenic epilepsy
  DISJ7OT6: Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
• Disease Identifiers:
  MONDO ID: MONDO_0018125
  UMLS CUI: C4707306
  MedGen ID: 1640999
  Orphanet ID: 352587
  SNOMED CT ID: 765089003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TBC1D24	OTKZUSMD	Supportive	Autosomal recessive	[1]

References

• [1] TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation. Epilepsy Res. 2013 Jul;105(1-2):240-4. doi: 10.1016/j.eplepsyres.2013.02.005. Epub 2013 Mar 19.