Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/79110
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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
1872-6844
Statement of
Responsibility: 
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; Genetics; Epilepsy; Malformation; TBC1D24
Rights: © 2013 Elsevier B.V. All rights reserved.
RMID: 0020128815
DOI: 10.1016/j.eplepsyres.2013.02.005
Appears in Collections:Paediatrics publications

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