VRK1

This website provides information on patients with mutations in the vaccinia-related kinase 1 (VRK1), including clinical data, molecular data, management, and research options.

VRK1-associated disease is a neurological disorder which can have both congenital and progressive manifestations. It some cases can affect brain development, leading to congenital microcephaly and abnormalities in brain development. In most cases there is motor neuron disease leading to muscle weakness, but there is very wide variability in the age of onset and the degree of severity.

Not all individuals with a mutation in the VRK1gene have these features.

This website was created to share and collect information about clinic, management and research projects, to gather more knowledge and provide better treatment of patients with mutations in the VRK1gene.

Clinicians who identify a patient with a mutation in VRK1are invited to submit this information to the database.

Ephrat Levy-Lahad, MD, Shaare Zedek Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel, Lahad@szmc.org.il
Lina Berkun, MD, Shaare Zedek Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel, linab@szmc.org.il