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andersen tawil

Hanora A Van Ert, Elise C McCune, Kate M Orland, Kathleen R Maginot, Nicholas H Von Bergen, Craig T January, Lee L Eckhardt
No abstract text is available yet for this article.
February 2017: HeartRhythm Case Reports
Michalina Krych, Elżbieta Katarzyna Biernacka, Joanna Ponińska, Piotr Kukla, Artur Filipecki, Robert Gajda, Can Hasdemir, Charles Antzelevitch, Agnieszka Kosiec, Małgorzata Szperl, Rafał Płoski, Maria Trusz-Gluza, Katarzyna Mizia-Stec, Piotr Hoffman
BACKGROUND: Andersen-Tawil syndrome (ATS) is rare channelopathy caused by KCNJ2 mutation and probably KCNJ5. It is characterized by arrhythmias, neurological symptoms, and dysmorphic features. The present study retrospectively examined the characteristics of 11 unrelated families with ATS. METHODS: This study consisted of 11 probands positive for KCNJ2 variants and 33 family members (mean age 30.0±17.3 years, female n=31). Additional genetic screening of 3 LQTS genes (KCNQ1, KCNH2, SCN5A) was performed in 9 families...
March 20, 2017: Journal of Cardiology
Fouad Al-Ghamdi, Basil T Darras, Partha S Ghosh
BACKGROUND: The nondystrophic skeletal muscle channelopathies are a group of disorders caused by mutations of various voltage-gated ion channel genes, including nondystrophic myotonia and periodic paralysis. METHODS: We identified patients with a diagnosis of muscle channelopathy from our neuromuscular database in a tertiary care pediatric center from 2005 to 2015. We then performed a retrospective review of their medical records for demographic characteristics, clinical features, investigations, treatment, and follow-up...
May 2017: Pediatric Neurology
Gokcen Oz Tuncer, Serap Teber, Muhammed Gültekin Kutluk, Pelin Albayrak, Gülhis Deda
No abstract text is available yet for this article.
2017: Journal of Neuromuscular Diseases
A Ardissone, V Sansone, L Colleoni, P Bernasconi, I Moroni
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant channelopathy characterized by periodic paralysis, cardiac dysrhythmias, and distinct facial and skeletal characteristics, that may be variably present in the affected members. Mutations in the KCNJ2 and KCNJ5 gene have been associated with this disorder. We describe a family in which several members presented with different ATS phenotypes. The proband, a 4-year-old boy, presented with recurrent episodes of muscle weakness from an early age; two siblings suffered cardiac arrhythmia but had never experienced episodes of paralysis; their mother reported occasional muscle pain after exercise and unspecified cardiac arrhythmias...
March 2017: Neuromuscular Disorders: NMD
Saman Rezazadeh, Jiqing Guo, Henry J Duff, Raechel A Ferrier, Brenda Gerull
Andersen-Tawil syndrome (ATS) is caused by mutations in KCNJ2 (Kir2.1). It remains unclear whether dilated cardiomyopathy (DCM) is a primary feature of ATS. We studied a proband with typical physical features of ATS plus DCM and moderate to severe left ventricular dysfunction (left ventricular ejection fraction = 30.5%). Genetic screening revealed a novel mutation in Kir2.1 (c.665T>C, p.L222S). Functional studies showed that this mutation reduced ionic currents in a dominant-negative manner. Suppression of ventricular arrhythmias with bisoprolol led to normalization of left ventricular size and function...
December 2016: Canadian Journal of Cardiology
Rui Fan, Ruirui Ji, Wenxin Zou, Guoliang Wang, Hu Wang, Daniel James Penney, Jin Jun Luo, Yuxin Fan
Andersen-Tawil syndrome (ATS) is an autosomal dominant, multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias and distinctive dysmorphic facial or skeletal features. The disorder displays marked intrafamilial variability and incomplete penetrance. Myasthenia gravis (MG) is an autoimmune disorder that demonstrates progressive fatigability, in which the nicotinic acetylcholine receptor (AChR) at neuromuscular junctions is the primary autoantigen. The present study reports a rare case of a 31-year-old woman with a history of morbid obesity and periodic weakness, who presented with hemodynamic instability, cardiogenic shock and facial anomalies...
October 2016: Experimental and Therapeutic Medicine
Jie Song, Sushan Luo, Xin Cheng, Dongyue Yue, Wenhua Zhu, Jie Lin, Jun Huang, Jiahong Lu, Chongbo Zhao, Kai Qiao
INTRODUCTION: Andersen-Tawil syndrome (ATS) is a rare multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and developmental dysmorphology. There are few reports concerning ATS in the Chinese population. We analyzed clinical features and evaluated the long exercise test as a tool for diagnosis of periodic paralysis in ATS. METHODS: Direct sequencing of KCNJ2 was performed in 12 subjects from mainland China with suspected ATS. Clinical features, therapeutic responses, and long exercise tests (LET) were retrospectively analyzed...
December 2016: Muscle & Nerve
Marc-André Weber, Armin M Nagel, Anja M Marschar, Philip Glemser, Karin Jurkat-Rott, Maya B Wolf, Mark E Ladd, Heinz-Peter Schlemmer, Hans-Ulrich Kauczor, Frank Lehmann-Horn
Purpose To determine whether altered sodium (Na(+)) and chloride (Cl(-)) homeostasis can be visualized in periodic paralyses by using 7-T sodium 23 ((23)Na) and chlorine 35 ((35)Cl) magnetic resonance (MR) imaging. Materials and Methods Institutional review board approval and informed consent of all participants were obtained. (23)Na (repetition time msec/echo time msec, 160/0.35) and (35)Cl (40/0.6) MR imaging of both lower legs was performed with a 7-T whole-body system in patients with genetically confirmed hypokalemic periodic paralysis (Cav1...
September 2016: Radiology
Michael David Fryer, Gerald Kaye, Susan Tomlinson
No abstract text is available yet for this article.
May 2015: Indian Pacing and Electrophysiology Journal
Na Ri Kim, Ja-Hyun Jang, Ga Won Jeon, Eun-Hae Cho, Jong Beom Sin
Andersen-Tawil syndrome is a rare autosomal dominant disease characterized by the clinical triad of periodic paralysis, long QT with ventricular arrhythmias, and dysmorphic facial or skeletal features. However, the phenotypic heterogeneity and poor disease awareness of this syndrome can hinder an accurate and timely diagnosis. In this study, we describe a Korean family with Andersen-Tawil syndrome with a G215D mutation of the KCNJ2 gene revealed by diagnostic exome sequencing. Two sisters had severe growth restriction, characteristic facial anomalies, and developmental delay...
2016: Annals of Clinical and Laboratory Science
Dany Spencer Adams, Sebastien G M Uzel, Jin Akagi, Donald Wlodkowic, Viktoria Andreeva, Pamela Crotty Yelick, Adrian Devitt-Lee, Jean-Francois Pare, Michael Levin
KEY POINTS: Xenopus laevis craniofacial development is a good system for the study of Andersen-Tawil Syndrome (ATS)-associated craniofacial anomalies (CFAs) because (1) Kcnj2 is expressed in the nascent face; (2) molecular-genetic and biophysical techniques are available for the study of ion-dependent signalling during craniofacial morphogenesis; (3) as in humans, expression of variant Kcnj2 forms in embryos causes a muscle phenotype; and (4) variant forms of Kcnj2 found in human patients, when injected into frog embryos, cause CFAs in the same cell lineages...
June 15, 2016: Journal of Physiology
Martha Abigaíl Reyes Villatoro, Manlio F Márquez, Jorge Gómez-Flores, Santiago Nava, Luis Colín, Pedro Iturralde
No abstract text is available yet for this article.
February 15, 2016: International Journal of Cardiology
Anders Krogh Brøndberg, Jesper Vandborg Bjerre, Jens Cosedis Nielsen, Henrik Kjærulf Jensen
Andersen-Tawil syndrome (ATS) is a rare hereditary multi--system disorder consisting of a triad of symptoms, ventricular arrhythmias, periodic paralysis and dysmorphic features. The syndrome is associated with a loss of function mutation in the gene KCNJ2, which encodes the Kir2.1 inward rectifier potassium channel. We represent a case story of a 15-year-old girl who had unexplained arrhythmias for six years. Molecular genetic screening with a 75-heart-panel revealed a pathogenic KCNJ2 missense mutation. The patient was diagnosed with ATS...
September 14, 2015: Ugeskrift for Laeger
Michalina Jagodzińska, Małgorzata Szperl, Joanna Ponińska, Agnieszka Kosiec, Robert Gajda, Piotr Kukla, Elżbieta Katarzyna Biernacka
BACKGROUND: Andersen-Tawil Syndrome (ATS) is a channelopathy caused by mutations in KCNJ2 gene. It is characterized by symptoms of ventricular arrhythmias, periodic paralysis or muscle weakness, and dysmorphic features. ATS can present with the triad of symptoms, any combination or none of them. Risk factors for dangerous arrhythmias are unknown. The study assessed the impact of K897T polymorphism in hERG1 gene and H558R polymorphism in SCN5A gene coexisting with R218Q mutation in KCNJ2 in one family on clinical manifestation...
March 2016: Annals of Noninvasive Electrocardiology
Balázs Ördög, Lidia Hategan, Mária Kovács, György Seprényi, Zsófia Kohajda, István Nagy, Zoltán Hegedűs, László Környei, Norbert Jost, Márta Katona, Miklós Szekeres, Tamás Forster, Julius Gy Papp, András Varró, Róbert Sepp
Loss-of-function mutations of the KCNJ2 gene encoding for the inward rectifier potassium channel subunit Kir2.1 cause Andersen-Tawil Syndrome (ATS), a rare genetic disorder characterised by periodic paralysis, ventricular arrhythmias, and dysmorphic features. Clinical manifestations of the disease appear to vary greatly with the nature of mutation, therefore, functional characterisation of ATS-causing mutations is of clinical importance. In this study, we describe the identification and functional analysis of a novel KCNJ2 mutation, Val302del, identified in a patient with ATS...
July 2015: Canadian Journal of Physiology and Pharmacology
Amee M Bigelow, Mohamed M Khalifa, John M Clark
No abstract text is available yet for this article.
July 2015: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Mohammed Almuqbil, Myriam Srour
No abstract text is available yet for this article.
March 17, 2015: Neurology
Rosalie M E Meijer van Putten, Isabella Mengarelli, Kaomei Guan, Jan G Zegers, Antoni C G van Ginneken, Arie O Verkerk, Ronald Wilders
Human induced pluripotent stem cell derived cardiomyocytes (hiPSC-CMs) are widely used in studying basic mechanisms of cardiac arrhythmias that are caused by ion channelopathies. Unfortunately, the action potential profile of hiPSC-CMs-and consequently the profile of individual membrane currents active during that action potential-differs substantially from that of native human cardiomyocytes, largely due to almost negligible expression of the inward rectifier potassium current (IK1). In the present study, we attempted to "normalize" the action potential profile of our hiPSC-CMs by inserting a voltage dependent in silico IK1 into our hiPSC-CMs, using the dynamic clamp configuration of the patch clamp technique...
2015: Frontiers in Physiology
P Jhansi Rani, P Yashodhara, N V Sundarachary, U Veeramma, Shaik Mansoor Elahi, Sridhar Amalakanti, A Lalitha
Andersen Tawil Syndrome (ATS) is a very rare type of periodic paralysis; the authors present a case report from South India with features that have not been reported earlier. This case suggests many unexplored hypotheses for the disease and argues the need for physician sensitization of this entity.
July 2015: Indian Journal of Pediatrics
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