Publications by authors named "Brittan S Sutphin"
Idiopathic scoliosis (IS) is a structural lateral spinal curvature of ≥10° that affects up to 3% of otherwise healthy children and can lead to life-long problems in severe cases. It is well-established that IS is a genetic disorder. Previous studies have identified genes that may contribute to the IS phenotype, but the overall genetic etiology of IS is not well understood.
View Article and Find Full Text PDFIntroduction: Perturbations in the CACNA1C-encoded L-type calcium channel α-subunit have been linked recently to heritable arrhythmia syndromes, including Timothy syndrome, Brugada syndrome, early repolarization syndrome, and long QT syndrome. These heritable arrhythmia syndromes may serve as a pathogenic basis for autopsy-negative sudden unexplained death in the young (SUDY). However, the contribution of CACNA1C mutations to SUDY is unknown.
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- Mutations in the CACNA1C gene lead to increased calcium current through the CaV1.2 L-type calcium channel, which is linked to long QT syndrome and Timothy syndrome.
- A specific variant (p.G1911R) was identified in a Filipino child experiencing arrhythmias, developmental delays, and other health issues, ultimately showing a gain-of-function effect on cardiac channels.
- This research sheds light on how the p.G1911R variant reduces voltage-dependent inactivation and increases window current, contributing to a higher risk for serious heart conditions and sudden unexplained infant death.