Browsing by Author "Scornik, Fabiana S."

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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

Martinez Moreno, Rebecca; Selga, Elisabet; Riuró, Helena; Carreras, David; Parnes, Mered; Srinivasan, Chandra; Wangler, Michael F.; Pérez, Guillermo J.; Scornik, Fabiana S.; Brugada, Ramon (Frontiers, 2020)

Voltage-gated sodium (NaV) channels are transmembrane proteins that initiate and propagate neuronal and cardiac action potentials. NaV channel b subunits have been widely studied due to their modulatory role. Mice null ...
Generation of four induced pluripotent stem cell lines from a family harboring a single nucleotide variant in SCN5A

Martinez Moreno, Rebecca; Carreras, David; Aran, Begoña; Kuebler, Bernd; Sarquella Brugada, Georgia; Brugada, Ramon; Pérez, Guillermo J.; Scornik, Fabiana S.; Selga, Elisabet (Elsevier, 2022)

Patient-derived induced pluripotent stem cells (iPSC) are a valuable approach to model cardiovascular diseases. We nucleofected non-integrating episomal vectors in skin fibroblasts of three family members carrying a single ...

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