Publications by authors named "Katherine Timothy"

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Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus Statement.
Jack F G Underwood, Katherine W Timothy, Holly Tyroll, Rebecca J Levy, Ivy E Dick

Res Sq· November 2025

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A Natural History Study of Timothy Syndrome.
Katherine W Timothy, Rosemary Bauer, Kerry A Larkin, Edward P Walsh, Dominic J Abrams

Orphanet J Rare Dis· November 2024

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Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome.
Maiko Matsui, Lauren E Lynch, Isabella Distefano, Allison Galante, Aravind R Gade, Timothy E McGraw, Katherine W Timothy

Nat Commun· October 2024

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International Cohort of Neonatal Timothy Syndrome.
Alexandra Matthews, Katherine Timothy, Andy Golden, M Cecilia Gonzalez Corcia

Neonatology· June 2024

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A Natural History Study of Timothy Syndrome.
Katherine W Timothy, Rosemary Bauer, Kerry A Larkin, Edward P Walsh, Dominic J Abrams

medRxiv· May 2024

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A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder.
Rebecca J Levy, Katherine W Timothy, Jack F G Underwood, Jeremy Hall, Jonathan A Bernstein

Pediatr Neurol· January 2023

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Hyperinsulinemic Hypoglycemia Associated with a Ca1.2 Variant with Mixed Gain- and Loss-of-Function Effects.
Sebastian Kummer, Susanne Rinné, Gunnar Seemann, Nadine Bachmann, Katherine Timothy

Int J Mol Sci· July 2022

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Update on the Molecular Genetics of Timothy Syndrome.
Rosemary Bauer, Katherine W Timothy, Andy Golden

Front Pediatr· May 2021

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Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare Disorder.
Keith A Dufendach, Katherine Timothy, Michael J Ackerman, Benjamin Blevins, Andreas Pflaumer

JACC Clin Electrophysiol· April 2018

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A multicentre study of patients with Timothy syndrome.
Mark A Walsh, Christian Turner, Katherine W Timothy, Neil Seller, Dominic L Hares

Europace· February 2018

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Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome.
Yuanfeng Gao, Xiaolin Xue, Dayi Hu, Wenling Liu, Yue Yuan, Katherine W Timothy

Circ Arrhythm Electrophysiol· June 2013

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Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.
Susan P Etheridge, Neil E Bowles, Cammon B Arrington, Thomas Pilcher, Alan Rope, Katherine W Timothy

Am J Med Genet A· October 2011

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Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome.
Niels Decher, Vijay Renigunta, Marylou Zuzarte, Malle Soom, Stefan H Heinemann, Katherine W Timothy

Cardiovasc Res· September 2007

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Cellular basis for the electrocardiographic and arrhythmic manifestations of Timothy syndrome: effects of ranolazine.
Serge Sicouri, Katherine W Timothy, Andrew C Zygmunt, Aaron Glass, Robert J Goodrow

Heart Rhythm· May 2007

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The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome.
Peter J Schwartz, Carla Spazzolini, Lia Crotti, Jørn Bathen, Jan P Amlie, Katherine Timothy

Circulation· February 2006

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Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
Igor Splawski, Katherine W Timothy, Niels Decher, Pradeep Kumar, Frank B Sachse

Proc Natl Acad Sci U S A· June 2005

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Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing.
Michael J Ackerman, Igor Splawski, Jonathan C Makielski, David J Tester, Melissa L Will, Katherine W Timothy

Heart Rhythm· November 2004

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Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
Igor Splawski, Katherine W Timothy, Leah M Sharpe, Niels Decher, Pradeep Kumar

Cell· October 2004

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An intronic mutation causes long QT syndrome.
Li Zhang, G Michael Vincent, Marco Baralle, Francisco E Baralle, Blake D Anson, Katherine W Timothy

J Am Coll Cardiol· September 2004

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A cardiac arrhythmia syndrome caused by loss of ankyrin-B function.
Peter J Mohler, Igor Splawski, Carlo Napolitano, Georgia Bottelli, Leah Sharpe, Katherine Timothy

Proc Natl Acad Sci U S A· June 2004

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Compound mutations: a common cause of severe long-QT syndrome.
Peter Westenskow, Igor Splawski, Katherine W Timothy, Mark T Keating, Michael C Sanguinetti

Circulation· April 2004

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Modulating effects of age and gender on the clinical course of long QT syndrome by genotype.
Wojciech Zareba, Arthur J Moss, Emanuela H Locati, Michael H Lehmann, Derick R Peterson, Katherine Timothy

J Am Coll Cardiol· July 2003

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Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.
Igor Splawski, Katherine W Timothy, Michihiro Tateyama, Colleen E Clancy, Alka Malhotra

Science· August 2002

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Congenital Long QT syndrome.
G Michael Vincent, Katherine Timothy, Li Zhang

Card Electrophysiol Rev· February 2002

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