2013
DOI: 10.1016/j.ijcard.2013.10.010
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Andersen–Tawil syndrome: Clinical and molecular aspects

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Cited by 91 publications
(121 citation statements)
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References 172 publications
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“…Seizure activity and long QT interval may be both due to the dysfunction of K ir 2.1 or an association to other subunits of the K ir family channels. Patients with mutations in the KCNJ2 gene are frequently associated with deficits in executive function and abstract reasoning, suggesting that the clinical phenotypes of ATS may involve the central nervous system (CNS) [2]. These findings in conjunction with the present report support the notion that ATS, as well as other LQTS, may indeed must be considered a cardio-cerebral syndrome [12].…”
Section: Contents Lists Available At Sciencedirectsupporting
confidence: 84%
“…Seizure activity and long QT interval may be both due to the dysfunction of K ir 2.1 or an association to other subunits of the K ir family channels. Patients with mutations in the KCNJ2 gene are frequently associated with deficits in executive function and abstract reasoning, suggesting that the clinical phenotypes of ATS may involve the central nervous system (CNS) [2]. These findings in conjunction with the present report support the notion that ATS, as well as other LQTS, may indeed must be considered a cardio-cerebral syndrome [12].…”
Section: Contents Lists Available At Sciencedirectsupporting
confidence: 84%
“…• LQT7 (zespół Andersen i Tawila), w którym obserwuje się wydłużenie odstępu QT z wyraźną falą U, wielokształtny lub dwukierunkowy VT, dysmorfię twarzy oraz hiper-lub hipokaliemiczne porażenie okresowe [433]; oraz • LQT8 (zespół Timothy'ego), charakteryzujący się wydłużeniem odstępu QT, syndaktylią, wadami wrodzonymi serca, zaburzeniami z kręgu autyzmu oraz dysmorfiami; -LQTS dziedziczony w sposób autosomalny recesywny (zespół Jervella i Lange-Nielsena), obejmujący skrajne wydłużenie odstępu QT oraz wrodzoną głuchotę.…”
Section: Definicje I Epidemiologiaunclassified
“…Patients show a variety of clinical signs like periodic paralysis, cardiac arrhythmias and developmental abnormalities. Recently, this interesting field has been comprehensively reviewed (24). On the other side of the coin, we find gain-of-function studies that contribute necessary additional information on the role of this intriguing ion current on cardiac electrophysiology.…”
Section: Introductionmentioning
confidence: 85%