Trafficking and localisation to the plasma membrane of Na<sub>v</sub>1.5 promoted by the β2 subunit is defective due to a β2 mutation associated with Brugada syndrome

Dulsat, Gemma; Palomeras, Sònia; Cortada, Èric; Riuró, Helena; Brugada, Ramón; Vergés, Marcel

doi:10.1111/boc.201600085

Cited by 21 publications

(46 citation statements)

References 56 publications

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“…[22] SCN2B variant might be associated with the risk of Brugada syndrome but not with the idiopathic generalized epilepsy in previous research. [15,22,28,29] We first screened the exon region of SCN2B in DS patients without SCN1A variant. There was no research about SCN2B variant in DS patients.…”

Section: Discussionmentioning

confidence: 99%

SCN1B and SCN2B gene variants analysis in dravet syndrome patients

et al. 2019

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Section: Discussionmentioning

confidence: 99%

SCN1B and SCN2B gene variants analysis in dravet syndrome patients

et al. 2019

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“…Brugada syndrome is associated with atrial and ventricular arrhythmia, and can lead to sudden cardiac death. Mutations in SCN2B have been characterised in human Brugada syndrome sufferers 28 – 30 , with the likely consequence of these mutations being to disrupt the ability of β2-subunits to chaperone voltage-gated sodium channel α-subunits, particularly Na v 1.5, to the plasma membrane 31 , 32 . The underlying causes of Brugada syndrome, and sudden death syndromes generally, are poorly understood.…”

Section: Discussionmentioning

confidence: 99%

The developmental transcriptome of the human heart

Pervolaraki

Dachtler

Anderson

et al. 2018

Sci Rep

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The human heart develops through complex mechanisms producing morphological and functional changes during gestation. We have recently demonstrated using diffusion tensor MRI that over the relatively short space of 40 days, between 100–140 days gestational age, the ventricular myocardium transforms from a disorganised tissue to the ordered structure characteristic of mature cardiac tissue. However, the genetic basis underpinning this maturation is unclear. Herein, we have used RNA-Seq to establish the developmentally-regulated transcriptome of gene expression in the developing human heart across three gestational ages in the first and second trimester. By comparing 9 weeks gestational age (WGA) with 12 WGA, we find 288 genes show significant differential expression. 305 genes were significantly altered comparing 12 and 16 WGA, and 806 genes differentially expressed between 9 and 16 WGA. Network analysis was used to identify genetic interactions, node properties and gene ontology categories. In summary, we present a comprehensive transcriptomic analysis of human heart development during early gestation, and identify differentially expressed genes during heart development between 9 and 16 weeks, overlapping the first and early second trimester.

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“…I Na is responsible for propagation of action potentials and mutations in Na v βs underlie certain types of epilepsy [ 224 ] and cardiac arrhythmia [ 225 ]. Na v β 1-3 traffic Na v α to the cell surface [ [226] , [227] , [228] ] and all Na v βs increase I Na [ [229] , [230] , [231] ]. Na v βs induce other changes in Na v α gating kinetics, including accelerated recovery from inactivation [ 232 , 233 ] and accelerated inactivation [ 230 , 234 ].…”

Section: Na + Channelsmentioning

confidence: 99%