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Helena Riuró

University of Girona

19

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265

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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

2020 Frontiers in Cell and Developmental Biology
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Sudden infant death as the most severe phenotype caused by genetic modulation in a family with atrial fibrillation

2019 Forensic Science International-genetics
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An SCN1B Variant Found in a Child Diagnosed with Epilepsy and Brugada Syndrome Modifies Brain-Type (Na V 1.1) and Cardiac-Type (Na V 1.5) Sodium Currents

2018 Biophysical Journal
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Trafficking of the sodium channel b2 Subunit in polarized cells

2017
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Trafficking and localization to the plasma membrane of Nav1.5 promoted by the β2 subunit is defective due to a β2 mutation associated with Brugada syndrome

2017 Biology of the Cell
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Large Genomic Imbalances in Brugada Syndrome.

2016 PLOS ONE
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Genetic analysis, in silico prediction, and family segregation in long QT syndrome

2015 European Journal of Human Genetics
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Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death

2015 International Journal of Molecular Sciences
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Functional Effects of a 2 Base Pair Deletion in β1b in a Brugada Syndrome Patient

2015
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A missense mutation in the sodium channel β1b subunit reveals SCN1B as a susceptibility gene underlying long QT syndrome

2014 Heart Rhythm
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Citations (29)