Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia von HAYASHI, Meiso, DENJOY, Isabelle, KAMBLOCK, Joël, MESSALI, Anne, GUICHENEY, Pascale, LUNARDI, Joël, LEENHARDT, Antoine, EXTRAMIANA, Fabrice, MALTRET, Alice, ROUX BUISSON, Nathalie, LUPOGLAZOFF, Jean-Marc, KLUG, Didier, HAYASHI, Miyuki, TAKATSUKI, Seiji, VILLAIN, Elisabeth

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Whole genome sequencing identifies a homozygous splicing variant in TDRKH segregating with non‐obstructive azoospermia in an Iranian family von Amiri‐Yekta, Amir, Sen, Sharanya, Hazane‐Puch, Florence, Tebbakh, Célia, Roux‐Buisson, Nathalie, Cazin, Caroline, Thierry‐Mieg, Nicolas, Bouras, Ahmed, Mohammad Ali, Sadighi‐Gilani, Hosseini, Seyedeh‐Hanieh, Goodarzian, Maedeh, Gourabi, Hamid, Ray, Pierre F., Kherraf, Zine‐Eddine

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Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: Results of a systematic screening von Roux-Buisson, Nathalie, MD, PhD, Gandjbakhch, Estelle, MD, PhD, Donal, Erwan, MD, PhD, Probst, Vincent, MD, PhD, Deharo, Jean-Claude, MD, Chevalier, Philippe, MD, PhD, Klug, Didier, MD, Mansencal, Nicolas, MD, PhD, Delacretaz, Etienne, MD, PhD, Cosnay, Pierre, MD, Scanu, Patrice, MD, Extramiana, Fabrice, MD, PhD, Keller, Dagmar, MD, Hidden-Lucet, Françoise, MD, Trapani, Jonathan, Fouret, Pierre, MD, PhD, Frank, Robert, MD, Fressart, Veronique, MD, PhD, Fauré, Julien, PhD, Lunardi, Joel, PharmD, PhD, Charron, Philippe, MD, PhD

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New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene von ROORYCK, CAROLINE, KYNDT, FLORENCE, BOZON, DOMINIQUE, ROUX-BUISSON, NATHALIE, SACHER, FREDERIC, PROBST, VINCENT, THAMBO, JEAN-BENOIT

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Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy von Ader, Flavie, Jedraszak, Guillaume, Janin, Alexandre, Billon, Clarisse, Buisson, Nathalie Roux, Bloch, Adrien, Bensalah, Meriem, De Sandre‐Giovannoli, Anachiara, Goudal, Adeline, Marsili, Luisa, Cazeneuve, Cécile, Charron, Philippe, Millat, Gilles, Richard, Pascale

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Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice von Fressart, Veronique, Duthoit, Guillaume, Donal, Erwan, Probst, Vincent, Deharo, Jean-Claude, Chevalier, Philippe, Klug, Didier, Dubourg, Olivier, Delacretaz, Etienne, Cosnay, Pierre, Scanu, Patrice, Extramiana, Fabrice, Keller, Dagmar, Hidden-Lucet, Françoise, Simon, Françoise, Bessirard, Vanessa, Roux-Buisson, Nathalie, Hebert, Jean-Louis, Azarine, Arshid, Casset-Senon, Daniele, Rouzet, François, Lecarpentier, Yves, Fontaine, Guy, Coirault, Catherine, Frank, Robert, Hainque, Bernard, Charron, Philippe

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Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq von Bakri, Faris Ghalib, Mollin, Michelle, Beaumel, Sylvain, Vigne, Bénédicte, Roux-Buisson, Nathalie, Al-Wahadneh, Adel Mohammed, Alzyoud, Raed Mohammed, Hayajneh, Wail Ahmad, Daoud, Ammar Khaled, Shukair, Mohammed Elian Abu, Karadshe, Mansour Fuad, Sarhan, Mahmoud Mohammad, Al-Ramahi, Jamal Ahmad Wadi, Fauré, Julien, Rendu, John, Stasia, Marie Jose

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Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome von Le Tanno, Pauline, Folacci, Mathilde, Revilloud, Jean, Faivre, Laurence, Laurent, Gabriel, Pinson, Lucile, Amedro, Pascal, Millat, Gilles, Janin, Alexandre, Vivaudou, Michel, Roux-Buisson, Nathalie, Fauré, Julien

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Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link? von Poussel, Mathias, Guerci, Philippe, Kaminsky, Pierre, Heymonet, Marie, Roux-Buisson, Nathalie, Faure, Julien, Fronzaroli, Emilien, Chenuel, Bruno

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The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands von Hayashi, Miyuki, Denjoy, Isabelle, Hayashi, Meiso, Extramiana, Fabrice, Maltret, Alice, Roux-Buisson, Nathalie, Lupoglazoff, Jean-Marc, Klug, Didier, Maury, Philippe, Messali, Anne, Guicheney, Pascale, Leenhardt, Antoine

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Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management von Roux-Buisson, Nathalie, Rendu, John, Denjoy, Isabelle, Guicheney, Pascale, Goldenberg, Alice, David, Nadine, Faivre, Laurence, Barthez, Olivier, Danieli, Gian Antonio, Marty, Isabelle, Lunardi, Joel, Fauré, Julien

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International Triadin Knockout Syndrome Registry von Clemens, Daniel J, Tester, David J, Giudicessi, John R, Bos, J Martijn, Rohatgi, Ram K, Abrams, Dominic J, Balaji, Seshadri, Crotti, Lia, Faure, Julien, Napolitano, Carlo, Priori, Silvia G, Probst, Vincent, Rooryck-Thambo, Caroline, Roux-Buisson, Nathalie, Sacher, Frederic, Schwartz, Peter J, Silka, Michael J, Walsh, Mark A, Ackerman, Michael J

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Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human von ROUX-BUISSON, Nathalie, CACHEUX, Marine, LE MAREC, Herve, LUCET, Vincent, MABO, Philippe, PROBST, Vincent, MONNIER, Nicole, RAY, Pierre F, SANTONI, Elodie, TREMEAUX, Pauline, LACAMPAGNE, Alain, FAURE, Julien, FOUREST-LIEUVIN, Anne, LUNARDI, Joël, MARTY, Isabelle, FAUCONNIER, Jeremy, BROCARD, Julie, DENJOY, Isabelle, DURAND, Philippe, GUICHENEY, Pascale, KYNDT, Florence, LEENHARDT, Antoine

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Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations in CYBB von Mollin, M., Beaumel, S., Vigne, B., Brault, J., Roux‐Buisson, N., Rendu, J., Barlogis, V., Catho, G., Dumeril, C., Fouyssac, F., Monnier, D., Gandemer, V., Revest, M., Brion, J.‐P., Bost‐Bru, C., Jeziorski, E., Eitenschenck, L., Jarrasse, C., Drillon Haus, S., Houachée‐Chardin, M., Hancart, M., Michel, G., Bertrand, Y., Plantaz, D., Kelecic, J., Traberg, R., Kainulainen, L., Fauré, J., Fieschi, F., Stasia, M. J.

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Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse von Cacheux, Marine, Fauconnier, Jérémy, Thireau, Jérôme, Osseni, Alexis, Brocard, Jacques, Roux-Buisson, Nathalie, Brocard, Julie, Fauré, Julien, Lacampagne, Alain, Marty, Isabelle

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Variations in the TRPV1 gene are associated to exertional heat stroke von Bosson, Caroline, Rendu, John, Pelletier, Laurent, Abriat, Amandine, Chatagnon, Amandine, Brocard, Julie, Brocard, Jacques, Figarella-Branger, Dominique, Ducreux, Sylvie, van Coppenolle, Fabien, Sagui, Emmanuel, Marty, Isabelle, Roux-Buisson, Nathalie, Faure, Julien

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Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT von Cacheux, Marine, Thireau, Jérôme, Fauconnier, Jérémy, Osseni, Alexis, Roux-Buisson, Nathalie, Brocard, Julie, Fauré, Julien, Lacampagne, Alain, Marty, Isabelle

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Challenging indication of cardioverter defibrillator implantation after sudden cardiac arrest in the very young: a case series of catecholaminergic polymorphic ventricular tachycar... von Maltret, Alice, Benaich, Fatima Azzahrae, Rendu, John, Fressart, Véronique, Roux-Buisson, Nathalie, Bonnet, Damien, Denjoy, Isabelle

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Management of malignant hyperthermia in France: Current organisation von Julien Marsollier, Florence, Roux-Buisson, Nathalie, Dalmas, Anne-Frederique, Bruneau, Beatrice, Dahmani, Souhayl

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Challenging indication of cardioverter defibrillator implantation after sudden cardiac arrest in the very young: a case series of catecholaminergic polymorphic ventricular tachycar... von Maltret, Alice, Benaich, Fatima Azzahrae, Rendu, John, Fressart, Véronique, Roux-Buisson, Nathalie, Bonnet, Damien, Denjoy, Isabelle

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