GNAO1 encephalopathy
Broadening the phenotype and evaluating treatment and outcome
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Article Information
- Received January 11, 2017
- Accepted in final form February 13, 2017
- First Published March 21, 2017.
Author Disclosures
- Federica Rachele Danti, MD,
- Serena Galosi, MD,
- Marta Romani, PhD,
- Martino Montomoli, MD,
- Keren J. Carss, PhD‡,
- F. Lucy Raymond, PhD‡,
- Elena Parrini, PhD,
- Claudia Bianchini, BSc,
- Tony McShane, MD,
- Russell C. Dale, PhD,
- Shekeeb S. Mohammad, MD,
- Ubaid Shah, MD,
- Neil Mahant, FRACP, PhD,
- Joanne Ng, MBChB,
- Amy McTague, MBChB,
- Rajib Samanta, MD,
- Gayatri Vadlamani, MD,
- Enza Maria Valente, MD, PhD,
- Vincenzo Leuzzi, MD, PhD,
- Manju A. Kurian, MD, PhD, MRCPCH* and
- Renzo Guerrini, MD, FRCP*
- Federica Rachele Danti, MD,
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- Serena Galosi, MD,
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- Marta Romani, PhD,
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- Martino Montomoli, MD,
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- Keren J. Carss, PhD‡,
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- F. Lucy Raymond, PhD‡,
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- Elena Parrini, PhD,
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- Claudia Bianchini, BSc,
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- Tony McShane, MD,
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- Russell C. Dale, PhD,
Queensland Children's Medical Institute Research advisory committee. Not for profit.
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received an honoraria for lecturing from Biogen Idec and Bristol-Myers-Squibb
Editorial advisory board member of MSARD Editorial board member of Neurology: Neuroimmunology and Neuroinflammation Editorial board member of European Journal of Paediatric Neurology
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Biogen Idec honoraria in 2008 and Bristol-Myers-Squibb in 2015
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NHMRC national grant in 2011 national grant for encephalitis study NHMRC practitioner fellowship 2014-8 NHMRC project grant 2015
Multiple Sclerosis Research Australia 2015
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- Shekeeb S. Mohammad, MD,
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Travel bursary from the Movement disorders society - 2015
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Postgraduate scholarship from NHMRC - 2015-16
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- Ubaid Shah, MD,
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- Neil Mahant, FRACP, PhD,
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- Joanne Ng, MBChB,
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MRC Clinical Research training fellowship
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Great Ormond Street Hospital Children's Charity Rosetrees Trust
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- Amy McTague, MBChB,
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1. Medical Research Council, MR/L001497/1, Clinical Research Training Fellowship, 2014.
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- Rajib Samanta, MD,
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- Gayatri Vadlamani, MD,
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- Enza Maria Valente, MD, PhD,
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Teva, honorarium for speaking at a scientific meeting
Pediatric Research, Genetic Section Editor, 2016
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Italian Ministry of Health, rare disease grant, PI, 2011- 2012 Italian Ministry of Health, grant giovani ricercatori, PI, 2011-2013 Italian Ministry of Health, grant ricerca finalizzata progetti di rete, WP coordinator, 2016-2019 European Community FP7 Program, MEFOPA project, clinical partner, 2009-2013 European Research Council, Starting Grant, PI, 2011-2017 Italian Ministry of University and Research,
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Telethon Foundation Italy, GGP10140, PI, 2011-2012 Telethon Foundation Italy, GGP13146, PI, 2013-2016
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- Vincenzo Leuzzi, MD, PhD,
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- Manju A. Kurian, MD, PhD, MRCPCH* and
Honoraria for speaking engagements - 2 Recordati courses
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- Renzo Guerrini, MD, FRCP*
Honoraria for Advisory Board activities and travel related expenses for: (1) Eisai Inc, (2) Novartis, (3) Zogenix.
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(1) EISAI: funding for travel. (2) Novartis funding for travel; (3) UCB: Funding for travel.
(1) Epilepsia: Associate Editor 2006-2013, (2) Progress in Epileptic Disorders, International Advisory Board, 2007- (3) Neuropediatrics, Editorial Board, 2001-2009 (4) Journal of Child Neurology, Editorial Board, 1995-2010, (5) Seizure, Editorial Board 2005-, (6) BMC Medical Genetics,Editorial Board, 2006-, (7) Topics in Epilepsy, Editorial Board, 2009- (8) Journal of Pediatric Epilepsy, Editorial Board, 2011- (9) Epileptic Disorders,Editorial Board, 1999-2012 (10) European Neurological Journal, Editorial Board, 2010- (11) Neurology, Editorial Board, 2013- (12) Journal of Embryology & Developmental Biology, 2016-
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(1) Epilepsy and Movements disorders, Cambridge University Press, 2002, (2) Aicardi's Epilepsy in Children, Lippincott Williams & Wilkins, 2004, (3) Progress in Epileptic Spasms and West Syndrome, John Libbey Eurotext, 2007, (4) Epilepsy and Migraine, John Libbey Eurotext, 2009, (5) The Causes of Epilepsy, Cambridge University Press, 2011. (6) Dravet syndrome, John Libbey Eurotext, 2011. (7) Epilepsy and epileptic seizures, Oxford University Press, 2012
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(1) EU contract number LSH-CT-2006-2011 037315 (EPICURE) FP6 - LIFESCIHEALTH. Subproject Coordinator (2) Tuscany Region. Research Department. Drug treatment and neuroprotection in hypoxic-ischemic brain injury and neonatal? infantile seizures. 2010-2013. Project Coordinator. (3) EC PROGRAM Rare disease: use of clinical trial simulation for the choice and optimization of study Design: Era-Net. 2011 ? 2014. Unit Coordinator. (4) EC. Genetics of cortical gyral dysgenesis and pathophysiology of tubulin-related malformations of cortical development. EU PROGRAM: E-RARE2. 2012-2014. Unit Coordinator. (5) EC FP7, 2013-2018. DESIRE: Development and Epilepsy - Strategies for Innovative Research to improve diagnosis, prevention and treatment in children with difficult to treat Epilepsy. Grant Agreement 6602531; Project Coordinator, 2013-2018. Italian Ministry of Health and Tuscany Region: An integrated approach to unravel the genetic causes and molecular pathogenesis of epileptogenic focal cortical dysplasia. RF-2013-02355240. 2016-2019. Project Coordinator.
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Pisa Foundation. Grant Title: Development of technology for the diagnostic characterisation and post-chemotherapy- radiotherapy monitoring of paediatric brain tumours using ultra high field MRI. 2013-2016. Project Coordinator.
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- From the Department of Paediatrics, Child Neurology and Psychiatry (F.R.D., S.G., V.L.), Sapienza University of Rome, Italy; Molecular Neurosciences, Developmental Neurosciences Programme (F.R.D., J.N., A.M., M.A.K.), University College London Institute of Child Health, UK; Department of Neurology (F.R.D., J.N., A.M., M.A.K.), Great Ormond Street Hospital for Children, London, UK; GENOMA Group (M.R.), Molecular Genetics Laboratory, Rome, Italy; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (M.M., E.P., C.B., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence, Italy; Department of Haematology (K.J.C.), University of Cambridge, NHS Blood and Transplant Centre, UK; NIHR Bioresource Rare Diseases (K.J.C., F.L.R.), University of Cambridge, UK; Department of Neurology (N.M.), Westmead Hospital, Sydney, Australia; Childrens Hospital Oxford (T.M.), John Radcliffe Hospital, UK; Institute for Neuroscience and Muscle Research (R.C.D., S.S.M., U.S.), the Children's Hospital at Westmead, University of Sydney, Australia; Department of Medical Genetics (F.L.R.), Cambridge Institute for Medical Research, University of Cambridge, UK; Department of Neurology (R.S.), University Hospitals Leicester NHS Trust, UK; Department of Paediatric Neurology (G.V.), Leeds Teaching Hospitals NHS Trust, UK; Section of Neurosciences (E.M.V.), Department of Medicine and Surgery, University of Salerno, Italy; and Neurogenetics Unit (E.M.V.), IRCCS Fondazione Santa Lucia, Rome, Italy.
- Correspondence to Dr. Guerrini: r.guerrini{at}meyer.it
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