Results 141 to 150 of about 4,944 (184)

Mechanisms underlying the distinct K+ dependencies of periodic paralysis. [PDF]

J Gen Physiol
Foy BD, Dupont C, Walker PV, Denman K, Engisch KL, Rich MM.   +5 more
europepmc   +1 more source

Large-scale functional assessment of variants of the potassium channel Kir2.1: Clinical and comparative insights. [PDF]

J Biol Chem
Anderson CL, Munuwar S, Walters JK, McWilliams SF, Melnick M, Langer ER, Bereslavskyy I, Milaitis MR, Reilly L, Eckhardt LL.   +9 more
europepmc   +1 more source

Subunit composition and subunit interactions behind ion channel function [PDF]

Déri Szilvia
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Flecainide for the Treatment of Andersen-Tawil Syndrome.

JACC: Clinical Electrophysiology
Andersen-Tawil syndrome type 1 (ATS1) is a rare arrhythmogenic disorder resulting from loss-of-function mutations in KCNJ2. Although the use of flecainide has been proposed to treat and prevent life-threatening arrhythmic events in ATS1, it has only been tested in small case series with limited follow-up.
Tomer Mann, Ayhan Yoruk, R. Neves, Auke T. Bergman, Martijn J. Bos, C. van der Werf, M. H. Gollob, Jason D. Roberts, H. Khan, S. Sanatani, Vasanth Vedantham, Byron K. Lee, Anastasiea Yesaulov, Andrew D. Krahn, R. Tadros, A. A. Wilde, Michael J. Ackerman, Melvin M. Scheinman   +17 more
semanticscholar   +3 more sources

Andersen-Tawil syndrome

International Journal of Cardiology, 2011
Advances in the understanding of genetic aspects of cardiovascular diseases, together with an increase in the availability of genetic analysis, have resulted in not only increased diagnosis of known inherited conditions, but also the identification of novel syndromes.
Robin A.P. Weir, Colin J. Petrie, Victoria Murday, Iain N. Findlay   +3 more
openaire   +1 more source

Andersen–Tawil Syndrome With Early Fixed Myopathy

Journal of Clinical Neuromuscular Disease, 2014
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant potassium channelopathy characterized by a triad of periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic abnormalities. We present a 19-year-old man with characteristic skeletal dysmorphic features of ATS, early nonfluctuating proximal lower limb weakness from childhood, and ...
Stela, Lefter, Orla, Hardiman, Donal, Costigan, Bryan, Lynch, John, McConville, Collette K, Hand, Aisling M, Ryan   +6 more
openaire   +2 more sources

Abstract 4367328: Mutations in the C-terminal of the KCNJ2 gene increase the odds of sudden cardiac death in Andersen-Tawil Syndrome.

Circulation
Background: Andersen-Tawil Syndrome (ATS) is an autosomal dominant disorder marked by dysmorphic features, periodic paralysis, and ventricular arrhythmias.
Alan Garcia, Richard Salama Frisbie, Abdul Mueez Alam Kayani, R. Lemus-Zamora, T. Fretz, Brijesh Patel   +5 more
semanticscholar   +1 more source

New genetic risk factor for serious cardiac events in Andersen-Tawil Syndrome - p.Arg71Gln variant in BAG3

European Heart Journal
Andersen-Tawil syndrome (ATS) is an ultrarare channelopathy caused by pathogenic variants in the KCNJ2. It presents with the typical triad of symptoms – U-wave in the ECG and ventricular arrhythmias, periodic paralysis, and dysmorphic features ...
M. Krych, J. Poninska, I. Kowalik, P. Bienias, A. Filipecki, R. Gajda, P. Kukla, A. Glowniak, M. Pitak, M. Mazij, K. Mizia-Stec, P. Pruszczyk, R. Płoski, P. Stawinski, E. K. Biernacka   +14 more
semanticscholar   +1 more source

New electrocardiographic risk factor for serious cardiac events in Andersen-Tawil syndrome

European Heart Journal
Andersen-Tawil syndrome (ATS, LQTS7) is an ultra-rare channelopathy caused by pathogenic variants in KCNJ2. The disease manifests with a triad of symptoms: ventricular arrhythmia and a prominent U wave in the ECG, dysmorphic features and periodic ...
M. Krych, J. Poninska, I. Kowalik, P. Bienias, A. Filipecki, R. Gajda, P. Kukla, A. Glowniak, M. Pitak, M. Mazij, K. Janisz, M. Lisicka, K. Mizia-Stec, P. Pruszczyk, E. K. Biernacka   +14 more
semanticscholar   +1 more source