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ArticlesPeer ReviewedFull Text
Cardiac channelopathies: diagnosis and contemporary management
Author / Creator:Mellor, Greg J ; Behr, Elijah R
Publisher:England: BMJ Publishing Group Ltd and British Cardiovascular Society
Journal title:Heart (British Cardiac Society), 2021-07, Vol.107 (13), p.1092-1099
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The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe
Author / Creator:Fernandez-Falgueras, Anna ; Coll, Monica ; Iglesias, Anna ; Tiron, Coloma ; Campuzano, Oscar ; Brugada, Ramon
Publisher:United States: Public Library of Science
Journal title:PloS one, 2024-05, Vol.19 (5), p.e0297914-e0297914
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ArticlesPeer ReviewedFull Text
Ion Channel Disorders and Sudden Cardiac Death
Author / Creator:Garcia-Elias, Anna ; Benito, Begoña
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2018-02, Vol.19 (3), p.692
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Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia
Author / Creator:Verdura, Edgard ; Fons, Carme ; Schlüter, Agatha ; Ruiz, Montserrat ; Fourcade, Stéphane ; Casasnovas, Carlos ; Castellano, Antonio ; Pujol, Aurora
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2020-02, Vol.57 (2), p.132-137
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Heart, sport, and genetic testing
Author / Creator:Di Fusco, Stefania Angela ; Castelletti, Silvia ; Chimenti, Cristina ; Nesti, Martina ; Pignalberi, Carlo ; Grego, Susanna ; Costantino, Jacopo ; Matteucci, Andrea ; Gil Ad, Vered ; Lucà, Fabiana ; Bilato, Claudio ; Riccio, Carmine ; Nardi, Federico ; Geraci, Giovanna ; Gabrielli, Domenico ; Grimaldi, Massimo ; Oliva, Fabrizio ; Colivicchi, Furio ; Aritmie, Area
Publisher:Italy
Journal title:Giornale italiano di cardiologia (2006), 2025-06, Vol.26 (6), p.432
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Prognostic impact of misdiagnosis of cardiac channelopathies as epilepsy
Author / Creator:Ramos-Maqueda, Javier ; Bermúdez-Jiménez, Francisco ; Ruiz, Rosa Macías ; Ramos, Mercedes Cabrera ; Lerma, Manuel Molina ; Millán, Pablo Sánchez ; López, Miguel Álvarez ; Sánchez, Luis Tercedor ; Jiménez-Jáimez, Juan
Publisher:United States: Public Library of Science
Journal title:PloS one, 2020-04, Vol.15 (4), p.e0231442
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Skeletal muscle channelopathies: a guide to diagnosis and management
Author / Creator:Matthews, Emma ; Holmes, Sarah ; Fialho, Doreen
Publisher:England: BMJ Publishing Group Ltd
Journal title:Practical neurology, 2021-06, Vol.21 (3), p.196-204
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ArticlesPeer ReviewedFull Text
Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies
Author / Creator:Campuzano, Oscar ; Allegue, Catarina ; Fernandez, Anna ; Iglesias, Anna ; Brugada, Ramon
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2015-01, Vol.5 (1), p.7953-7953, Article 7953
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Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches
Author / Creator:D’Adamo, Maria Cristina ; Liantonio, Antonella ; Rolland, Jean-Francois ; Pessia, Mauro ; Imbrici, Paola
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2020-04, Vol.21 (8), p.2935
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Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases
Author / Creator:Neubauer, Jacqueline ; Lecca, Maria Rita ; Russo, Giancarlo ; Bartsch, Christine ; Medeiros-Domingo, Argelia ; Berger, Wolfgang ; Haas, Cordula
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-04, Vol.25 (4), p.404-409
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A retrospective study of accuracy and usefulness of electrophysiological exercise tests
Author / Creator:Periviita, Vesa ; Jokela, Manu ; Palmio, Johanna ; Udd, Bjarne
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2024-04, Vol.271 (4), p.1802-1812
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Risk stratification and exercise recommendations in cardiomyopathies and channelopathies: a practical guide for the multidisciplinary team
Author / Creator:Basu, Joyee ; MacLachlan, Hamish ; Bhatia, Raghav ; Alexander, Helen ; Cooper, Robert ; Sheikh, Nabeel
Publisher:London: BMJ Publishing Group LTD
Journal title:Heart (British Cardiac Society), 2025-06, p.heartjnl-2024-324318
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ArticlesPeer ReviewedFull Text
Abnormal electrocardiographic findings in athletes: recognising changes suggestive of primary electrical disease
Author / Creator:Drezner, Jonathan A ; Ackerman, Michael J ; Cannon, Bryan C ; Corrado, Domenico ; Heidbuchel, Hein ; Prutkin, Jordan M ; Salerno, Jack C ; Anderson, Jeffrey ; Ashley, Euan ; Asplund, Chad A ; Baggish, Aaron L ; Börjesson, Mats ; DiFiori, John P ; Fischbach, Peter ; Froelicher, Victor ; Harmon, Kimberly G ; Marek, Joseph ; Owens, David S ; Paul, Stephen ; Pelliccia, Antonio ; Schmied, Christian M ; Sharma, Sanjay ; Stein, Ricardo ; Vetter, Victoria L ; Wilson, Mathew G
Publisher:England: BMJ Publishing Group Ltd and British Association of Sport and Exercise Medicine
Journal title:British journal of sports medicine, 2013-02, Vol.47 (3), p.153-167
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The prevalence and significance of a short QT interval in 18 825 low-risk individuals including athletes
Author / Creator:Dhutia, Harshil ; Malhotra, Aneil ; Parpia, Sameer ; Gabus, Vincent ; Finocchiaro, Gherardo ; Mellor, Greg ; Merghani, Ahmed ; Millar, Lynne ; Narain, Rajay ; Sheikh, Nabeel ; Behr, Elijah R ; Papadakis, Michael ; Sharma, Sanjay
Publisher:England: BMJ Publishing Group
Journal title:British journal of sports medicine, 2016-01, Vol.50 (2), p.124-129
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ArticlesPeer ReviewedFull Text
Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency
Author / Creator:Yu, Fang ; Agrebi, Nourhen ; Mackeh, Rafah ; Abouhazima, Khaled ; KhudaBakhsh, Khadija ; Adeli, Mehdi ; Lo, Bernice ; Hassan, Amel ; Machaca, Khaled
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2021-07, Vol.41 (5), p.1004-1015
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ArticlesPeer ReviewedFull Text
Prevalence and associated factors of ECG abnormality patterns indicative of cardiac channelopathies among adult general population of Tehran, Iran: a report from the Tehran Cohort Study (TeCS)
Author / Creator:Ahmadi-Renani, Sajjad ; Soltani, Danesh ; Farshbafnadi, Melina ; Shafiee, Akbar ; Jalali, Arash ; Mohammadi, Mohammad ; Golestanian, Sepehr ; kamalian, Erfan ; Alaeddini, Farshid ; Saadat, Soheil ; Sadeghian, Saeed ; Mansoury, Bahman ; Boroumand, Mohamamdali ; Karimi, Abbasali ; Masoudkabir, Farzad ; Vasheghani-Farahani, Ali
Publisher:England: BioMed Central Ltd
Journal title:BMC cardiovascular disorders, 2024-10, Vol.24 (1), p.566-10, Article 566
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Familial gain-of-function Na v 1.9 mutation in a painful channelopathy
Author / Creator:Han, Chongyang ; Yang, Yang ; te Morsche, Rene H ; Drenth, Joost P H ; Politei, Juan M ; Waxman, Stephen G ; Dib-Hajj, Sulayman D
Publisher:England
Journal title:Journal of neurology, neurosurgery and psychiatry, 2017-03, Vol.88 (3), p.233-240
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Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics
Author / Creator:Gnazzo, Maria ; Parlapiano, Giovanni ; Di Lorenzo, Francesca ; Perrino, Daniele ; Genovese, Silvia ; Lanari, Valentina ; Righi, Daniela ; Calì, Federica ; Silvetti, Massimo Stefano ; Falcone, Elena ; Bauleo, Alessia ; Drago, Fabrizio ; Novelli, Antonio ; Baban, Anwar
Publisher:Switzerland: MDPI AG
Journal title:Biomolecules (Basel, Switzerland), 2024-11, Vol.14 (11), p.1450
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A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia
Author / Creator:Hasan, Sonia ; Bove, Cecilia ; Silvestri, Gabriella ; Mantuano, Elide ; Modoni, Anna ; Veneziano, Liana ; Macchioni, Lara ; Hunter, Therese ; Hunter, Gary ; Pessia, Mauro ; D’Adamo, Maria Cristina
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-07, Vol.7 (1), p.4583-13, Article 4583
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Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment
Author / Creator:Tanaka, Naoto ; Dutrow, Emily V. ; Miyadera, Keiko ; Delemotte, Lucie ; MacDermaid, Christopher M. ; Reinstein, Shelby L. ; Crumley, William R. ; Dixon, Christopher J. ; Casal, Margret L. ; Klein, Michael L. ; Aguirre, Gustavo D. ; Tanaka, Jacqueline C. ; Guziewicz, Karina E.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-09, Vol.10 (9), p.e0138943-e0138943
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Showing 1 to 20 of 37 results

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Cardiac channelopathies: diagnosis and contemporary management

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The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe

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Ion Channel Disorders and Sudden Cardiac Death

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Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

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Heart, sport, and genetic testing

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Prognostic impact of misdiagnosis of cardiac channelopathies as epilepsy

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Skeletal muscle channelopathies: a guide to diagnosis and management

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Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies

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Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches

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Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases

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A retrospective study of accuracy and usefulness of electrophysiological exercise tests

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Risk stratification and exercise recommendations in cardiomyopathies and channelopathies: a practical guide for the multidisciplinary team

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Abnormal electrocardiographic findings in athletes: recognising changes suggestive of primary electrical disease

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The prevalence and significance of a short QT interval in 18 825 low-risk individuals including athletes

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Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency

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Prevalence and associated factors of ECG abnormality patterns indicative of cardiac channelopathies among adult general population of Tehran, Iran: a report from the Tehran Cohort Study (TeCS)

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Familial gain-of-function Na v 1.9 mutation in a painful channelopathy

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Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics

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A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

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Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment

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