Referenced in: none

Automatically associated channels: Kir2.1

Title: Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles.

Authors: S Veronica Tan, Werner J Z'graggen, Delphine Boërio, Dipa L Raja Rayan, Robin Howard, Michael G Hanna, Hugh Bostock

Journal, date & volume: Muscle Nerve, 2012 Aug , 46, 193-203

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22806368

Abstract
Andersen-Tawil syndrome (ATS) due to Kir2.1mutations typically manifests as periodic paralysis, cardiac arrhythmias and developmental abnormalities but is often difficult to diagnose clinically. This study was undertaken to determine whether sarcolemmal dysfunction could be identified with muscle velocity recovery cycles (MVRCs).Eleven genetically confirmed ATS patients and 20 normal controls were studied. MVRCs were recorded with 1, 2, and 5 conditioning stimuli and with single conditioning stimuli during intermittent repetitive stimulation at 20 Hz, in addition to the long exercise test.ATS patients had longer relative refractory periods (P < 0.0001) and less early supernormality, consistent with membrane depolarization. Patients had reduced enhancement of late supernormality with 5 conditioning stimuli (P < 0.0001), and less latency reduction during repetitive stimulation (P < 0.001). Patients were separated completely from controls by combining MVRC and repetitive stimulation.MVRCs combined with repetitive stimulation differentiated ATS patients from controls more effectively than the conventional long-exercise test.