title: TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.
abstract: We describe the clinical and radiological features of a family with a homozygous mutation in TBC1D24. The phenotype comprised onset of focal seizures at 2 months with prominent eye-blinking, facial and limb jerking with an oral sensory aura. These were controllable with medication but persisted into adult life. Associated features were mild to moderate intellectual disability and cerebellar features. MRI showed subtle cortical thickening with cerebellar atrophy and high signal confined to the ansiform lobule. The disorder is allelic with familial infantile myoclonic epilepsy, where intellect and neurologic examination are normal, highlighting the phenotypic variation with mutations of TBC1D24.
authors.affiliation: Tel-Aviv University Medical School, Tel-Aviv 61999, Israel. afawi@bgu.ac.il
authors.forename: Zaid
authors.initials: Z
authors.lastname: Afawi
authors.forename: Simone
authors.initials: S
authors.lastname: Mandelstam
authors.forename: Amos D
authors.initials: AD
authors.lastname: Korczyn
authors.forename: Sara
authors.initials: S
authors.lastname: Kivity
authors.forename: Simri
authors.initials: S
authors.lastname: Walid
authors.forename: Adel
authors.initials: A
authors.lastname: Shalata
authors.forename: Karen L
authors.initials: KL
authors.lastname: Oliver
authors.forename: Mark
authors.initials: M
authors.lastname: Corbett
authors.forename: Jozef
authors.initials: J
authors.lastname: Gecz
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
authors.forename: Graeme D
authors.initials: GD
authors.lastname: Jackson
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities*; D002540:Cerebral Cortex / Q000002:abnormalities*; D003072:Cognition Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D004828:Epilepsies, Partial / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D020690:GTPase-Activating Proteins; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins; D010375:Pedigree; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; D020690:GTPase-Activating Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C552551:TBC1D24 protein, human