?url_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Adc&rft.title=Andersen-Tawil+Syndrome&rft.creator=Smith%2C+Andrew+H&rft.creator=Fish%2C+Frank+A&rft.creator=Kannankeril%2C+Prince+J&rft.subject=Indian+Pacing+and+Electrophysiology+Journal&rft.description=Andersen-Tawil+syndrome+(ATS)+is+a+rare+condition+consisting+of+ventricular+arrhythmias%2C+periodic+paralysis%2C+and+dysmorphic+features.++In+2001%2C+mutations+in+KCNJ2%2C+which+encodes+the+%CE%B1+subunit+of+the+potassium+channel+Kir2.1%2C+were+identified+in+patients+with+ATS.++To+date%2C+KCNJ2+is+the+only+gene+implicated+in+ATS%2C+accounting+for+approximately+60%25+of+cases.++ATS+is+a+unique+channelopathy%2C+and+represents+the+first+link+between+cardiac+and+skeletal+muscle+excitability.++The+arrhythmias+observed+in+ATS+are+distinctive%3B+patients+may+be+asymptomatic%2C+or+minimally+symptomatic+despite+a+high+arrhythmia+burden+with+frequent+ventricular+ectopy+and+bidirectional+ventricular+tachycardia.++However%2C+patients+remain+at+risk+for+life-threatening+arrhythmias%2C+including+torsades+de+pointes+and+ventricular+fibrillation%2C+albeit+less+commonly+than+observed+in+other+genetic+arrhythmia+syndromes.++The+characteristic+heterogeneity+at+both+the+genotypic+and+phenotypic+levels+contribute+to+the+continued+difficulties+with+appropriate+diagnosis%2C+risk+stratification%2C+and+effective+therapy.++The+initial+recognition+of+a+syndromic+association+of+clinically+diverse+symptoms%2C+and+the+subsequent+identification+of+the+underlying+molecular+genetic+basis+of+ATS+has+enhanced+both+clinical+care%2C+and+our+understanding+of+the+critical+function+of+Kir2.1+on+skeletal+muscle+excitability+and+cardiac+action+potential&rft.publisher=Indian+Pacing+and+Electrophysiology+Group&rft.contributor=Singh%2C+Balbir&rft.contributor=Lokhandwala%2C+Yash&rft.contributor=Francis%2C+Johnson&rft.contributor=Gupta%2C+Anup&rft.contributor=Ghosh%2C+Joydeep&rft.date=2006-01&rft.type=Journal+(Paginated)&rft.type=PeerReviewed&rft.format=text%2Fhtml&rft.identifier=http%3A%2F%2Fcogprints.org%2F4676%2F1%2Fkannankeril.htm&rft.format=application%2Fpdf&rft.identifier=http%3A%2F%2Fcogprints.org%2F4676%2F2%2Fkannankeril.pdf&rft.identifier=++Smith%2C+Andrew+H+and+Fish%2C+Frank+A+and+Kannankeril%2C+Prince+J++(2006)+Andersen-Tawil+Syndrome.++%5BJournal+(Paginated)%5D+++++&rft.relation=http%3A%2F%2Fcogprints.org%2F4676%2F