Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
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Article Information
- Received July 6, 2020
- Accepted in final form October 30, 2020
- First Published January 29, 2021.
Author Disclosures
- Jennifer M. Bain, MD, PhD,
- Olivia Thornburg, BA (ost2103{at}cumc.columbia.edu),
- Cheryl Pan (cp3002{at}columbia.edu),
- Donnielle Rome-Martin, MS, OTR/L, ATR (dlr2140{at}cumc.columbia.edu),
- Lia Boyle, BA (lb2905{at}cumc.columbia.edu),
- Xiao Fan, PhD (xf2193{at}cumc.columbia.edu),
- Orrin Devinsky, MD (orrin.devinsky{at}nyulangone.org),
- Richard Frye, MD, PhD (drfryemdphd{at}gmail.com),
- Silke Hamp, MD (hamp{at}kinderarzt-gdz.de),
- Cynthia G. Keator, MD (cynthia.keator{at}cookchildrens.org),
- Nicole M. LaMarca, DNP (nicoleholuba{at}gmail.com),
- Alexis B.R. Maddocks, MD (ar3684{at}cumc.columbia.edu),
- Marcos Madruga-Garrido, MD (mmadruga{at}us.es),
- Karen Y. Niederhoffer, MD (karen.niederhoffer{at}albertahealthservices.ca),
- Francesca Novara, PhD (francesca.novara{at}microgenomics.it),
- Angela Peron, MD (angela.peron{at}unimi.it),
- Elizabeth Poole-Di Salvo, MD, MPH (elp9066{at}med.cornell.edu),
- Rachel Salazar, DPT (rchl.slzr{at}gmail.com),
- Steven A. Skinner, MD (sas{at}ggc.org),
- Gabriela Soares, MD (gabigenpro{at}gmail.com),
- Sylvie Goldman, PhD (sg3253{at}cumc.columbia.edu) and
- Wendy K. Chung, MD, PhD (wkc15{at}cumc.columbia.edu)
- Jennifer M. Bain, MD, PhD,
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- Olivia Thornburg, BA (ost2103{at}cumc.columbia.edu),
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- Cheryl Pan (cp3002{at}columbia.edu),
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- Donnielle Rome-Martin, MS, OTR/L, ATR (dlr2140{at}cumc.columbia.edu),
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(1) Entrada Theraputics
(1) Clinical Minds
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- Lia Boyle, BA (lb2905{at}cumc.columbia.edu),
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TL1 Training Program. Grant Number: TL1TR001875
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- Xiao Fan, PhD (xf2193{at}cumc.columbia.edu),
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- Orrin Devinsky, MD (orrin.devinsky{at}nyulangone.org),
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Cognitive and Behavioral Neurology; Oxford University Press, 2002 Epilepsy: Patient and Family Guide, Demos Press, 2008 Alternative Therapies for Epilepsy, Demos Press, 2012 Epilepsy In Children, Demos Press, 2015
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I have consulted for GW Pharmaceuticals and Cavion and The Center for Discovery and TIlray
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Scientific Advisory Board and/or Equity Interest for Estate biosciences, Tevard, Egg Rock, Engage, Empatica, Rettco, Receptor Life Sciences, California Cannabis Enterprises and Tilray. Principal Investigator, North American SUDEP Registry and Sudden Unexplained Childhood Death Registry and Research Collaborative Funded by NINDS, NIMH, Dept of Defense, CDC
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For research support: GW Pharmaceuticals Novartis Marinus PTC Pharma Ovid Pharma Silver Spike Epilepsy Foundation Script Therapeutics Regel Therapeutics Eisai Therapeutics
Ongoing Support NIH U01 NS090407 (PI: S. Lhatoo) 09/30/14 Â 7/31/2019 Center for SUDEP Research: Autonomic and Imaging Biomarkers of SUDEP The principal aim is to identify the central mechanisms and markers of autonomic and respiratory dysfunction that underlie the fatal scenario in SUDEP, and thus, provide insights into potential interventions. Role: Co-Investigator NIH U01 NS090415 (PIs: M. Thom, O. Devinsky) 9/30/14 Â 7/31/2019 Center for SUDEP Research: The Neuropathology of SUDEP: The central autonomic network, serotonin and adenosine The proposed studies will leverage the worldÂs largest collection of SUDEP brains to explore the role of specific histopathological and biomolecular abnormalities in the brain, focusing on critical brainstem regions and the neurotransmitters serotonin and adenosine. Role: PI National Center for Chronic Disease Prevention and Promotion U48 DP 005008-01S4 (PIs: T. Spruill, O. Devinsky) 9/1/2014 Â 8/31/2019 Managing Epilepsy Well: Adapting Project UPLIFT for Hispanic Adults with Epilepsy This project proposes to translate and culturally tailor Project UPLIFT for Hispanic patients, then test and disseminate the Spanish version. Project UPLIFT is an evidence-based intervention that incorporates cognitive behavioral and mindfulness techniques to reduce depression in adults with epilepsy. Role: Co-Investigator NIH R01 EB 018308 (PIs: K.T. Block, H. Chandarana) 9/1/2014 - 8/31/2019 Comprehensive Motion-Robust Pediatric MR Imaging Using Radial Acquisitions The proposed project aims to develop novel motion-robust magnetic resonance imaging techniques and evaluate them in clinical studies for imaging of pediatric patients with Tuberous Sclerosis. Role: Co-Investigator
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Rettco - Stock Tevard - Stock Engage - Stock Qstate - Stock Tilray - Stock Options Leafly - Stock Docklight - Stock Left coast ventures - Stock California Cannabis Enterprises - stock Receptor Life Sciences - Stock Egg Rock - Stock Empatica - Stock SilverSpike - Stock Regel Biosciences - stock Script biosciences - Stock
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- Richard Frye, MD, PhD (drfryemdphd{at}gmail.com),
Finch Biosciences
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Journal of Personalized Medicine, Editorial Board Journal of Translational Genetics and Genomics, Editorial Board Annals of Translational Medicine, Editorial Board Clinical Medicine Insights: Pediatrics, Editorial Board Journal of Autism and Epilepsy, Editorial Board American Journal of Neuroscience Research, Advisory Editorial Board Frontiers in Child Health and Human Development, Associate Editor Journal of Central Nervous System Disease, Editorial Board Frontiers in Neuropsychiatric Imaging and Stimulation, Review Editorial Board Scientific Reports Editorial Board OA Autism, Advisory Board Member The North American Journal of Medicine and Science, Editorial Board Computers in Biology and Medicine, Editorial Board
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Phoenix Children's Hospital
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GW Pharmaceuticals
Department of Defense National Institute of Child Health and Development Centers for Disease Control and Prevention
Valley Research Partnership Award PCH Leadership Circle
Innovative Neuroscience for Kids (INK) Foundation The Brain Foundation. N of One Foundation Autism Speaks Turnabout for Autism The Jonty Foundation Autism Research Institute
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- Silke Hamp, MD (hamp{at}kinderarzt-gdz.de),
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- Cynthia G. Keator, MD (cynthia.keator{at}cookchildrens.org),
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- Nicole M. LaMarca, DNP (nicoleholuba{at}gmail.com),
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Biogen advisory board, speakers bureau Sarepta, PTC AdvisoryBoard
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Novartis Gene Therapies - no impact on this project
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Biogen-speakers bureau
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Columbia University School of Nursing
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- Alexis B.R. Maddocks, MD (ar3684{at}cumc.columbia.edu),
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- Marcos Madruga-Garrido, MD (mmadruga{at}us.es),
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- Karen Y. Niederhoffer, MD (karen.niederhoffer{at}albertahealthservices.ca),
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- Francesca Novara, PhD (francesca.novara{at}microgenomics.it),
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- Angela Peron, MD (angela.peron{at}unimi.it),
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Speaker honoraria from Italfarmaco related to Tuberous Sclerosis Complex, 2019
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- Elizabeth Poole-Di Salvo, MD, MPH (elp9066{at}med.cornell.edu),
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- Rachel Salazar, DPT (rchl.slzr{at}gmail.com),
Advisory board for AveXis, Biogen, Sarepta
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CureSMA
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Currently employed by Sarepta
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Speakers' bureau for Biogen
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- Steven A. Skinner, MD (sas{at}ggc.org),
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- Gabriela Soares, MD (gabigenpro{at}gmail.com),
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Unilabs - CGCgenetics, medical geneticist, 2
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- Sylvie Goldman, PhD (sg3253{at}cumc.columbia.edu) and
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- Wendy K. Chung, MD, PhD (wkc15{at}cumc.columbia.edu)
Regeneron Genetics Center SAB
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Ovid
NIH
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- From the Division of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
- Correspondence
Dr. Bain Jb3634{at}cumc.columbia.edu
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