NextGen nuclear <scp>DNA</scp> sequencing in cyclic vomiting syndrome reveals a significant association with the stress‐induced calcium channel (<i><scp>RYR</scp>2</i>)

Abstract

We propose a mechanism in which RYR2 sequence variants result in aberrant stress-induced calcium release into the mitochondria of autonomic neurons, resulting in an increased risk to develop autonomic/functional disease such as CVS, and related conditions such as migraine and gut dysmotility. This model incorporates the existing hypotheses regarding CVS pathogenesis into a cohesive mechanism, and might have treatment implications.