Since the identification of the first SCN5A mutation associated with long QT syndrome in 1995, several mutations in this gene for the α subunit of the cardiac sodium channel have been identified in a ...

De novo mutations are a cause of sporadic disease, but little is known about the developmental timing of such mutations. We studied concordant and discordant monozygous twins with de novo mutations in ...

Much like a city, the body relies on electricity to power its functions. Electrical currents keep the heart beating on pace, relax and contract muscles, and flow from neuron to neuron. To modulate the ...

Autism spectrum disorder (ASD) is a heterogeneous disorder initiated early in development and characterized by abnormal social communication. Accumulating evidence supports the idea that specific ...

Researchers have revealed new details of the mechanisms of ion channel inactivation. Two studies by researchers at The Johns Hopkins University School of Medicine reveal new details of the mechanisms ...