[HTML][HTML] hERG K+ channels: structure, function, and clinical significance
The human ether-a-go-go related gene (hERG) encodes the pore-forming subunit of the
rapid component of the delayed rectifier K+ channel, Kv11. 1, which are expressed in the …
rapid component of the delayed rectifier K+ channel, Kv11. 1, which are expressed in the …
Long noncoding RNA (lincRNA), a new paradigm in gene expression control
Long intergenic non-coding RNAs (lincRNAs) are defined as RNA transcripts that are longer
than 200 nucleotides. By definition, these RNAs must not have open reading frames that …
than 200 nucleotides. By definition, these RNAs must not have open reading frames that …
Structures of human Nav1.7 channel in complex with auxiliary subunits and animal toxins
Voltage-gated sodium channel Nav1. 7 represents a promising target for pain relief. Here we
report the cryo–electron microscopy structures of the human Nav1. 7-β1-β2 complex bound …
report the cryo–electron microscopy structures of the human Nav1. 7-β1-β2 complex bound …
[HTML][HTML] Using high-resolution variant frequencies to empower clinical genome interpretation
Purpose Whole-exome and whole-genome sequencing have transformed the discovery of
genetic variants that cause human Mendelian disease, but discriminating pathogenic from …
genetic variants that cause human Mendelian disease, but discriminating pathogenic from …
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership …
MJ Ackerman, SG Priori, S Willems, C Berul… - Europace, 2011 - academic.oup.com
1From Mayo Clinic, Rochester, Minnesota; 2Fondazione Salvatore Maugeri University of
Pavia, Pavia, Italy and New York University, New York, New York; 3University Hospital …
Pavia, Pavia, Italy and New York University, New York, New York; 3University Hospital …
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
To assess factors influencing the success of whole-genome sequencing for mainstream
clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families …
clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families …
Pharmacological and non-pharmacological therapy for arrhythmias in the pediatric population: EHRA and AEPC-Arrhythmia Working Group joint consensus statement
J Brugada, N Blom, G Sarquella-Brugada… - Europace, 2013 - academic.oup.com
In children with structurally normal hearts, the mechanisms of arrhythmias are usually the
same as in the adult patient. Some arrhythmias are particularly associated with young age …
same as in the adult patient. Some arrhythmias are particularly associated with young age …
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
JD Kapplinger, DJ Tester, M Alders, B Benito, M Berthet… - Heart rhythm, 2010 - Elsevier
BACKGROUND: Brugada syndrome (BrS) is a common heritable channelopathy. Mutations
in the SCN5A-encoded sodium channel (BrS1) culminate in the most common genotype …
in the SCN5A-encoded sodium channel (BrS1) culminate in the most common genotype …
Gene variant effects across sodium channelopathies predict function and guide precision therapy
A Brunklaus, T Feng, T Brünger, E Perez-Palma… - Brain, 2022 - academic.oup.com
Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …
Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy
Objective The leading cause of epilepsy‐related premature mortality is sudden unexpected
death in epilepsy (SUDEP). The cause of SUDEP remains unknown. To search for genetic …
death in epilepsy (SUDEP). The cause of SUDEP remains unknown. To search for genetic …