Article
TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.
Epilepsy research - 1 Jul 2013
Afawi Zaid, Mandelstam Simone, Korczyn Amos D, Kivity Sara, Walid Simri, Shalata Adel, Oliver Karen L, Corbett Mark, Gecz Jozef, Berkovic Samuel F, Jackson Graeme D
Abstract excerpt
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...
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