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Type: Journal article
Title: TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation
Author: Afawi, Z.
Mandelstam, S.
Korczyn, A.
Kivity, S.
Walid, S.
Shalata, A.
Oliver, K.
Corbett, M.
Gecz, J.
Berkovic, S.
Jackson, G.
Citation: Epilepsy Research, 2013; 105(1-2):240-244
Publisher: Elsevier Science BV
Issue Date: 2013
ISSN: 0920-1211
Statement of
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
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.
Keywords: Focal seizures
Intellectual disability
Rights: © 2013 Elsevier B.V. All rights reserved.
DOI: 10.1016/j.eplepsyres.2013.02.005
Appears in Collections:Aurora harvest 4
Paediatrics publications

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