Close
| Sponsor | University College London |
| Funder | National Institutes of Health (NIH - USA) |
| CI | Professor Michael Hanna |
| Sites | London Queen Square |
| More information |
Background
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.
Recruitment
11 patients have been enrolled at the National Hospital for Neurology and Neurosurgery.