Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses

Laura Addis; William Sproviero; Sanjeev V Thomas; Roberto H Caraballo; Stephen J Newhouse; Kumudini Gomez; Elaine Hughes; Maria Kinali; David McCormick; Siobhan Hannan; Silvia Cossu; Jacqueline Taylor; Cigdem I Akman; Steven M Wolf; David E Mandelbaum; Rajesh Gupta; Rick A van der Spek; Dario Pruna; Deb K Pal

doi:10.1136/jmedgenet-2018-105319

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Neurogenetics

Original article

Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses

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Laura Addis Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King’s College London, London, UK Neuroscience Discovery Research, Eli Lilly and Company, Surrey, UK PubMed articles Google scholar articles
William Sproviero Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King’s College London, London, UK PubMed articles Google scholar articles
Sanjeev V Thomas Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India PubMed articles Google scholar articles
Roberto H Caraballo Department of Neurology, Hospital de Pediatría Prof. Dr. J.P. Garrahan, Combate de los Pozos 1881, Buenos Aires, Argentina PubMed articles Google scholar articles
Stephen J Newhouse Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology & Neuroscience, King’s College London, London, UK NIHR Biomedical Research Centre at South London and Maudsley NHS Foundation Trust, Bethlem Royal Hospital, Beckenham, UK Farr Institute of Health Informatics Research, UCL Institute of Health Informatics, University College London, London, UK PubMed articles Google scholar articles
Kumudini Gomez Department of Paediatrics, University Hospital Lewisham, Lewisham and Greenwich NHS Trust, London, UK PubMed articles Google scholar articles
Elaine Hughes Department of Paediatric Neurosciences, Evelina London Children’s Hospital, St Thomas’ Hospital, London, UK PubMed articles Google scholar articles
Maria Kinali Department of Paediatric Neurology, Chelsea and Westminster Hospital, London, UK PubMed articles Google scholar articles
David McCormick Department of Paediatric Neurosciences, Evelina London Children’s Hospital, St Thomas’ Hospital, London, UK PubMed articles Google scholar articles
Siobhan Hannan Department of Paediatric Neurology, Chelsea and Westminster Hospital, London, UK PubMed articles Google scholar articles
Silvia Cossu Neurosurgery Unit, Neuroscience and Neurorehabilitation Department, Bambino Gesù Children Hospital, Rome, Italy Neurology Unit, Pediatric Hospital A. Cao, Brotzu Hospital Trust, Cagliari, Italy PubMed articles Google scholar articles
Jacqueline Taylor Barnet and Chase Farm Hospitals, London, UK PubMed articles Google scholar articles
Cigdem I Akman Division of Pediatric Neurology, College of Physicians and Surgeons of Columbia University, New York City, New York, USA PubMed articles Google scholar articles
Steven M Wolf Department of Neurology, Mount Sinai Health System, New York City, New York, USA PubMed articles Google scholar articles
David E Mandelbaum Departments of Pediatrics, Alpert Medical School of Brown University, Providence, Rhode Island, USA PubMed articles Google scholar articles
Rajesh Gupta Department of Paediatrics, Tunbridge Wells Hospital, Pembury, UK PubMed articles Google scholar articles
Rick A van der Spek Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands PubMed articles Google scholar articles
Dario Pruna Neurology Unit, Pediatric Hospital A. Cao, Brotzu Hospital Trust, Cagliari, Italy PubMed articles Google scholar articles
Deb K Pal Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King’s College London, London, UK PubMed articles Google scholar articles

Correspondence to Dr Laura Addis, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King’s College London, London SE5 9RX, UK; laura.addis{at}kcl.ac.uk

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Citation

Addis L, Sproviero W, Thomas SV, et al

Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses

Journal of Medical Genetics 2018;55:607-616.

Publication history

Received February 8, 2018
Revised April 18, 2018
Accepted April 28, 2018
First published May 22, 2018.

Online issue publication

June 15, 2020

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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. This is an open access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/

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