Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/79110
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dc.contributor.authorAfawi, Z.en
dc.contributor.authorMandelstam, S.en
dc.contributor.authorKorczyn, A.en
dc.contributor.authorKivity, S.en
dc.contributor.authorWalid, S.en
dc.contributor.authorShalata, A.en
dc.contributor.authorOliver, K.en
dc.contributor.authorCorbett, M.en
dc.contributor.authorGecz, J.en
dc.contributor.authorBerkovic, S.en
dc.contributor.authorJackson, G.en
dc.date.issued2013en
dc.identifier.citationEpilepsy Research, 2013; 105(1-2):240-244en
dc.identifier.issn0920-1211en
dc.identifier.issn1872-6844en
dc.identifier.urihttp://hdl.handle.net/2440/79110-
dc.description.abstractWe 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.en
dc.description.statementofresponsibilityZaid Afawi, Simone Mandelstam, Amos D. Korczyn, Sara Kivity, Simri Walid, Adel Shalata, Karen L. Oliver, Mark Corbett, Jozef Gecz, Samuel F. Berkovic, Graeme D. Jacksonen
dc.language.isoenen
dc.publisherElsevier Science BVen
dc.rights© 2013 Elsevier B.V. All rights reserved.en
dc.subjectFocal seizures; Intellectual disability; Genetics; Epilepsy; Malformation; TBC1D24en
dc.titleTBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformationen
dc.typeJournal articleen
dc.identifier.rmid0020128815en
dc.identifier.doi10.1016/j.eplepsyres.2013.02.005en
dc.identifier.pubid19264-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidCorbett, M. [0000-0001-9298-3072]en
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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