Publications:

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN5A: I890T

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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An SCN1B Variant Affects Both Cardiac-Type (NaV1.5) and Brain-Type (NaV1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders.

Frontiers In Cell And Developmental Biology

Martinez-Moreno, Rebecca R; Selga, Elisabet E; Riuró, Helena H; Carreras, David D; Parnes, Mered M; Srinivasan, Chandra C; Wangler, Michael F MF; Pérez, Guillermo J GJ; Scornik, Fabiana S FS; Brugada, Ramon R

Publication Date: 2020

Variant appearance in text: SCN5A: I890T

PubMed Link: 33134290

Variant Present in the following documents:

• fcell-08-528742.pdf

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Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Ebiomedicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Fernandez-Falgueras, Anna A; Coll, Mónica M; Iglesias, Anna A; Ferrer-Costa, Carles C; Cesar, Sergi S; Arbelo, Elena E; García-Álvarez, Ana A; Jordà, Paloma P; Toro, Rocío R; Tiron de Llano, Coloma C; Grassi, Simone S; Oliva, Antonio A; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2020-04

Variant appearance in text: SCN5A: 2669T>C; Ile890Thr

PubMed Link: 32268277

Variant Present in the following documents:

• Main text
• main.pdf

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Predicting changes to INa from missense mutations in human SCN5A.

Scientific Reports

Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA

Publication Date: 2018-08-24

Variant appearance in text: SCN5A: I890T

PubMed Link: 30143662

Variant Present in the following documents:

• 41598_2018_30577_MOESM1_ESM.pdf

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Dysfunctional Nav1.5 channels due to SCN5A mutations.

Experimental Biology And Medicine (Maywood, N.J.)

Han, Dan D; Tan, Hui H; Sun, Chaofeng C; Li, Guoliang G

Publication Date: 2018-06

Variant appearance in text: SCN5A: I890T

PubMed Link: 29806494

Variant Present in the following documents:

• Main text

View BVdb publication page

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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Frontiers In Pharmacology

Loussouarn, Gildas G; Sternberg, Damien D; Nicole, Sophie S; Marionneau, Céline C; Le Bouffant, Francoise F; Toumaniantz, Gilles G; Barc, Julien J; Malak, Olfat A OA; Fressart, Véronique V; Péréon, Yann Y; Baró, Isabelle I; Charpentier, Flavien F

Publication Date: 2015

Variant appearance in text: SCN5A: I890T

PubMed Link: 26834636

Variant Present in the following documents:

• fphar-06-00314.pdf

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Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.

Plos One

Selga, Elisabet E; Campuzano, Oscar O; Pinsach-Abuin, Mel Lina ML; Pérez-Serra, Alexandra A; Mademont-Soler, Irene I; Riuró, Helena H; Picó, Ferran F; Coll, Mònica M; Iglesias, Anna A; Pagans, Sara S; Sarquella-Brugada, Georgia G; Berne, Paola P; Benito, Begoña B; Brugada, Josep J; Porres, José M JM; López Zea, Matilde M; Castro-Urda, Víctor V; Fernández-Lozano, Ignacio I; Brugada, Ramon R

Publication Date: 2015

Variant appearance in text: SCN5A: 2669T>C; I890T

PubMed Link: 26173111

Variant Present in the following documents:

• Main text
• pone.0132888.pdf

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A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.

Plos One

Tarradas, Anna A; Selga, Elisabet E; Beltran-Alvarez, Pedro P; Pérez-Serra, Alexandra A; Riuró, Helena H; Picó, Ferran F; Iglesias, Anna A; Campuzano, Oscar O; Castro-Urda, Víctor V; Fernández-Lozano, Ignacio I; Pérez, Guillermo J GJ; Scornik, Fabiana S FS; Brugada, Ramon R

Publication Date: 2013

Variant appearance in text: SCN5A: I890T

PubMed Link: 23308164

Variant Present in the following documents:

• Main text
• pone.0053220.pdf

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