CDKL5 variants
Improving our understanding of a rare neurologic disorder
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Article Information
- Received May 2, 2017
- Accepted in final form September 28, 2017
- First Published December 15, 2017.
Author Disclosures
- Ralph D. Hector, PhD,
- Vera M. Kalscheuer, PhD,
- Friederike Hennig, MSc,
- Helen Leonard, MBChB,
- Jenny Downs, PhD,
- Angus Clarke, DM,
- Tim A. Benke, MD, PhD,
- Judith Armstrong, PhD,
- Mercedes Pineda, MD, PhD,
- Mark E.S. Bailey, PhD and
- Stuart R. Cobb, PhD
- Ralph D. Hector, PhD,
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(1) Loulou Foundation, funding for travel to speak at conference
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(1) CDKL5 UK (2) Loulou Foundation, Junior Fellowship
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- Vera M. Kalscheuer, PhD,
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(1)University of Pennsylvania Orphan Disease Center on behalf of Loulou Foundation
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- Friederike Hennig, MSc,
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- Helen Leonard, MBChB,
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Dr Helen Leonard received an honorarium and travel funding to attend the International Symposium of Rett Syndrome in Kobe in 2017, Japan as well as two other symposia in Kurume and Tokyo. Travel to Rett syndrome conferences in Rome, Italy (October 2105), Kazan, Russia (May 2016), Melbourne, Australia (November 2015) and Vienna, Austria (October 2016) has also been funded by the Italian, Russian and Australia Rett syndrome parent associations. In March 2017, her travel to Melbourne to attend a clinical trials meeting was funded by Newron Pharmaceuticals. Dr Leonard?s travel to attend the CDKL5 forums in London in October 2015 and 2016 was funded through the Loulou Foundation.
On Editorial Board 2013-2017 for journal Children
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NHMRC Program Grant #572742, PI 2010-2014 Dr Leonard is currently funded by a NHMRC Senior Research Fellowship #1117105.
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International Foundation for CDKL5 Research Rettsyndrome.org
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- Jenny Downs, PhD,
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Funded by the Rett Syndrome Association of Australia to present at the 2015 family conference in Geelong Australia. Funded by BioGen to attend an assessment workshop for Spinal Muscular Atrophy.
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(1) Telethon Kids Institute, Senior Research Fellow, 11 years (2) Curtin University, Lecturer, 14 years
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NHMRC Project Grant #1103745, CIA, 2016-2018 NHMRC Project Grant #1103746, CIA, 2016-2019
Telethon Kids Institute (Big Idea Seed Funding), CIA, 2016 Telethon Kids Institute (Brain and Behaviour Seed Grant), CIA, 2015-2016
International Foundation for CDKL5 Research, CIB, 2016-2018
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- Angus Clarke, DM,
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Associate Editor, Journal of Community Genetics Associate Editor, European Journal of Human Genetics Editorial Board, Human Genetics Editorial Board, Communication & Medicine Editorial Board, Wiley's Encyclopedia of Life Sciences Editorial Board, Genome Medicine
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Edimer Pharmaceuticals
ESRC Grant Number ES/L002868/1 Co-Applicant (Principal Applicant for the Cardiff site) 2014-2017
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- Tim A. Benke, MD, PhD,
1) commercial entity: Avexis (since Aug 1, 2017) 2) commercial entity: Marinus (since Sep 26, 2017)
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1) Questcor Pharmaceuticals (Benke-PI)03/01/2012-12/30/2017 Whole-exome sequencing and ACTH responsiveness in Infantile Spasms
1) 1U10NS077277 (Vollmer)9/30/2011-08/31/2018 NIH/NINDS Rocky Mountain Network for Neuroscience Clinical Studies Role: Co-I. 2) U54 HD061222 (Percy)09/30/2003-07/31/2019 Rare Disease CRC for New Therapies and New Diagnostics Role: Site Director, Co-I. 3)OMBD (Benke-site PI)09/01/2016-08/31/2019 Rett Syndrome Research Trust (RSRT) Outcome Measures and Biomarker Development in Rett Syndrome 4) Cure/Emory (Traynelis)08/01/2016-07/31/2018 Site PI Functional and clinical evaluations of glutamate receptor mutations in epileptic encephalopathies 5) Orphan Disease Center/U Penn (Benke-PI) 5/01/2017-/30/2018 CDKL5 Pilot Grant Program Mechanisms and treatment of paradoxical hyperexcitability in CDKL5 deficiency syndrome.
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- Judith Armstrong, PhD,
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- Mercedes Pineda, MD, PhD,
Received consulting fees and payment for lectures from Actelion Pharmaceuticals Ltd and BioMarin.
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Consultant of child neurologist on NPC for Actelion during the last 5 years
- Mark E.S. Bailey, PhD and
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(1) RettCo Inc.
(1) Chief Scientist Office, Scottish Government Health Directorate, Grant no. ETM/334, co-I, 2014-2016 (2) Chief Scientist Office, Scottish Government Health Directorate, Development Work Grant no. CGA/16/3, co-I, 2016-2016
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(1) CDKL5 UK (2) Rett Syndrome Research Trust (3) Rett Syndrome Association Scotland (4) Rosetrees Trust (5) Stoneygate Trust
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- Stuart R. Cobb, PhD
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(1) Chief Scientist Office,ETM334, PI,2014-2016
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(1) CDKL5 UK (2) Rett Syndrome Research Trust (3) Rett Syndrome Association Scotland (4) Rosetrees Trust (5) RS Macdonald Charitable Trust
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- From the Institute of Neuroscience & Psychology (R.D.H., S.R.C.), University of Glasgow, UK, Drs. Hector and Cobb are currently with the Patrick Wild Centre and Centre for Discovery Brain Science, University of Edinburgh, UK; Group Development and Disease (V.M.K., F.H.), Max Planck Institute for Molecular Genetics, Berlin, Germany; Telethon Kids Institute (H.L., J.D.), The University of Western Australia, Perth, Western Australia; School of Physiotherapy and Exercise Science (J.D.), Curtin University, Perth, Australia; Institute of Medical Genetics (A.C.), School of Medicine, Cardiff University, Cardiff, Wales, UK; Departments of Pediatrics, Pharmacology, Neurology and Otolaryngology (T.A.B.), University of Colorado School of Medicine, Aurora, CO; Paedriatic Neuroscience (J.A., M.P.), Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Spain; Hospital Sant Joan de Déu Barcelona (J.A.), Esplugues de Llobregat, Spain; CIBERER (J.A.), Barcelona, Spain; Neuropediatrics (M.P.), Fundació Sant Joan de Déu, Esplugues de Llobregat, Spain; and School of Life Sciences (M.E.S.B.), College of Medical, Veterinary and Life Sciences, University of Glasgow, UK.
- Correspondence to Dr. Hector: ralph.hector{at}ed.ac.uk
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