PURA. The title of this blog, Beyond the Ion Channel, is intended to reflect the wide variety of genes that can cause epilepsy and related neurodevelopmental conditions. Our last post on CACNA1A brought us back to channelopathies, so this blog post will again shift our focus. This post will introduce the new gene page for PURA, a gene that we did not feature as prominently as we should have. Here are five things to know about PURA, which is relatively recent to be described as a condition, and is likely more common than originally thought.
Tag Archives: PURA
PURA mutations and when diverse phenotypes become a single syndrome
Reverse. With the increasing amount of genetic information available in patients with various neurodevelopmental syndromes, some genes will be observed more than once in patients. In a recent study in the Journal of Medical Genetics, the authors trace back the phenotypes of individuals carrying de novo mutations in PURA. However, there seems to be a wide range of clinical features with a seemingly inverse genotype-phenotype correlation. Continue reading
