What are the Clinical Implications of Ankyrin B Dysfunction?
Mutations in the ANK2 gene can lead to several disorders. One of the most studied conditions is ankyrin-B syndrome, which is characterized by cardiac arrhythmias, including long QT syndrome and sinus node dysfunction. In neurons, improper ankyrin B function is associated with neurodevelopmental disorders and has been implicated in certain forms of epilepsy.
