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Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

Cross, JH; Arora, R; Heckemann, RA; Gunny, R; Chong, K; Carr, L; Baldeweg, T; ... Bockenhauer, D; + view all (2013) Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. Dev Med Child Neurol , 55 (9) 846 - 856. 10.1111/dmcn.12171. Green open access

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Abstract

Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene. Here, we provide a detailed characterization of the clinical features of the syndrome to aid patient management with respect to diagnosis, prognostic counselling, and identification of best treatment modalities.

Type: Article
Title: Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/dmcn.12171
Publisher version: http://dx.doi.org/10.1111/dmcn.12171
Language: English
Additional information: © 2014 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1404713
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