Queen Square Centre for Neuromuscular Diseases


Genotype - phenotype correlation and longitudinal studies (Andersen-Tawil syndrome)

Sponsor University College London
Funder National Institutes of Health (NIH - USA)
CI Professor Michael Hanna
Sites London Queen Square
More information


ATS is a neuromuscular disorder caused by a mutation in the KCNJ2 gene. Many different mutations in this gene have already been identified in affected individuals. This disorder is characterized by periodic paralysis, developmental abnormalities and cardiac arrhythmias.

This is a natural history study of ATS.

Primary objective

To study the relationship between the genetic abnormalities and the clinical features of ATS.


11 patients have been enrolled at the National Hospital for Neurology and Neurosurgery.