TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation

Zaid Afawi, Simone Mandelstam, Amos D. Korczyn, Sara Kivity, Simri Walid, Adel Shalata, Karen L. Oliver, Mark Corbett, Jozef Gecz, Samuel F. Berkovic, Graeme D. Jackson

Research output: Contribution to journalArticlepeer-review

25 Scopus citations

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.

Original languageEnglish
Pages (from-to)240-244
Number of pages5
JournalEpilepsy Research
Volume105
Issue number1-2
DOIs
StatePublished - Jul 2013
Externally publishedYes

Bibliographical note

Funding Information:
We are very grateful to the family for their participation in the study. This work was funded by grants obtained from the National Health and Medical Research Council of Australia and supported by International Science Linkages established under the Australian Government's innovation statement, Backing Australia's Ability .

Keywords

  • Epilepsy
  • Focal seizures
  • Genetics
  • Intellectual disability
  • Malformation
  • TBC1D24

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