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Biology / Syndromes / Genetic genealogy / Timothy syndrome / Rare diseases / Long QT syndrome / Cav1.2 / Andersen–Tawil syndrome / Mutation / Channelopathy / Health / Cardiac dysrhythmia


CLINICAL REPORT Long QT, Syndactyly, Joint Contractures, Stroke and Novel CACNA1C Mutation: Expanding the Spectrum of Timothy Syndrome Jane Gillis,1 Elena Burashnikov,2 Charles Antzelevitch,2 Susan Blaser,3 Gil Gross,4
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Document Date: 2013-03-12 12:13:21

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Spokane / Dedham / GILLIS ET / Minneapolis / Halifax / Bowles / Toronto / Foster City / Utica / /

Company

CodonCode Corporation / GenBank / Gentra Systems Inc. / Molecular Genetics Laboratory / Wellman / Masonic Medical Research Laboratory / Canada 2 Masonic Medical Research Laboratory / Wiley Periodicals Inc. / /

Country

South Africa / Canada / /

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Facility

The Hospital / The University of Toronto / Mount Sinai Hospital / Memorial University of Newfoundland / Ontario Hydro Generation Building / Dalhousie University / Molecular Genetics Laboratory / Masonic Medical Research Laboratory / University Avenue / University of Toronto / Wiley Online Library / /

IndustryTerm

Magnetic resonance imaging / organ systems / abnormal protein product / Online Library / /

MedicalCondition

PDA / hypertrophic cardiomyopathy / mild scoliosis / planus deformity / Syndactyly / hypocalcemia / intractable seizures / heart-hand syndrome / myopathy / seizures / demonstrated contractures / further strokes / significant infections / Timothy Syndrome / patient’s stroke / intracerebral hemorrhage / syncope / cardiac arrhythmia / lethal arrhythmia / torsade de pointes / small patent foramen ovale / subsequent intractable seizures / rare disorder / multisystem disorder / disorder / Romano-Ward syndrome / illness / cortical blindness / hypoglycemia / incomplete right bundle branch block / long QT syndrome / arrhythmia / Tawil syndrome / calcium channel dysfunction / mental retardation / intermittent hypoglycemia / periodic paralysis / heart block / patent ductus arteriosus / autism / Stroke / contraction / subacute left hemispheric stroke / coagulopathy and bleeding disorders / AV block / Joint Contractures / seizure / polymorphic ventricular tachycardia / Severe arrhythmia disorder / associated polymorphic ventricular tachycardia / Timothy syndrome INTRODUCTION Timothy syndrome / hypotonia / early uncontrolled arrhythmia / contractures / DISCUSSION Timothy syndrome / Idiopathic long QT syndrome / human disease / syndrome / disorders / /

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Keating MT. / /

Organization

Hospital for Sick Children / University of Toronto / Toronto / Human Genome Variation Society / Memorial University of Newfoundland / Canada Division of Cardiology / Department of Pediatrics / IWK Health Centre / Division of Clinical and Metabolic Genetics / Division of Neuroradiology / Dalhousie University / Mount Sinai Hospital / /

Person

Susan A. Bartkowiak / Jane Gillis / David Chitayat / /

Product

glycine / /

ProvinceOrState

Alabama / Newfoundland / Nova Scotia / Ontario / /

RadioStation

Nova / /

Technology

alpha / Genomics / AV / ultrasound / Human Genome / Magnetic resonance imaging / http / PDA / /

URL

http /

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