Results 1 to 10 of about 4,875 (137)

A case report of Andersen-Tawil syndrome misdiagnosed with myodystrophy [PDF]

Frontiers in Neurology, 2023
Andersen-Tawil syndrome (ATS) is a rare periodic paralysis caused by the KCNJ2 gene mutation. Here, we report on an ATS patient misdiagnosed with myodystrophy.
Xiuqin Zhao, Hengbing Zu, Kai Yao
doaj   +3 more sources

Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report [PDF]

Frontiers in Pediatrics, 2022
Andersen–Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad: periodic paralysis, ventricular arrhythmias associated with prolonged QT interval, and dysmorphic skeletal and facial features.
Jisook Yim, Jisook Yim, Kyoung Bo Kim, Minsun Kim, Gun Dong Lee, Myungshin Kim, Myungshin Kim   +6 more
doaj   +3 more sources

Case report: Mexiletine suppresses ventricular arrhythmias in Andersen-Tawil syndrome [PDF]

Frontiers in Cardiovascular Medicine, 2022
It is arduous to determine clinical solutions for Andersen-Tawil syndrome (ATS) in patients intolerant of β-blocker. Here, we present the case of a 7-year-old boy with periodic paralysis and dysmorphic features who experienced syncope four times during ...
Jing Yang, Jing Yang, Kun Li, Tingting Lv, Ying Xie, Fang Liu, Ping Zhang, Ping Zhang   +7 more
doaj   +3 more sources

When the U Wave Tells the Story: Andersen–Tawil Syndrome Unmasked [PDF]

Annals of Noninvasive Electrocardiology
A 26‐year‐old woman with recurrent syncope was diagnosed with Andersen‐Tawil syndrome (ATS) following abnormal electrocardiographic (ECG) findings.
Shasha Yu, Hang Lv
doaj   +3 more sources

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome [PDF]

Frontiers in Genetics, 2021
Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by KCNJ2 loss-of-function mutations.
Pauline Le Tanno, Mathilde Folacci, Jean Revilloud, Laurence Faivre, Gabriel Laurent, Lucile Pinson, Lucile Pinson, Lucile Pinson, Pascal Amedro, Gilles Millat, Alexandre Janin, Michel Vivaudou, Nathalie Roux-Buisson, Julien Fauré   +13 more
doaj   +3 more sources

Potassium-sensitive loss of muscle force in the setting of reduced inward rectifier K⁺ current: Implications for Andersen-Tawil syndrome. [PDF]

Proc Natl Acad Sci U S A
Andersen-Tawil syndrome (ATS) is an ion channelopathy with variable penetrance for the triad of periodic paralysis, arrhythmia, and dysmorphia. Dominant-negative mutations of KCNJ2 encoding the Kir2.1 potassium channel subunit are found in 60% of ATS ...
Elia N, Quiñonez M, Wu F, Mokhonova E, DiFranco M, Spencer MJ, Cannon SC.   +6 more
europepmc   +4 more sources

Phenotypic Variability of Andersen–Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene—A New Family Case Report [PDF]

Biomolecules
Andersen–Tawil syndrome (ATS) is a multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, prolonged QT interval, and facial dysmorphisms occurring in the first/second decade of life.
Maria Elena Onore, Esther Picillo, Paola D’Ambrosio, Salvatore Morra, Vincenzo Nigro, Luisa Politano   +5 more
doaj   +3 more sources

Extracellular Kir2.1^C122Y Mutant Upsets Kir2.1-PIP₂ Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome. [PDF]

Circ Res
BACKGROUND: Andersen-Tawil syndrome type 1 is a rare heritable disease caused by mutations in the gene coding the strong inwardly rectifying K channel Kir2.1.
Cruz FM, Macías Á, Moreno-Manuel AI, Gutiérrez LK, Vera-Pedrosa ML, Martínez-Carrascoso I, Sánchez Pérez P, Ruiz Robles JM, Bermúdez-Jiménez FJ, Díaz-Agustín A, Martínez de Benito F, Arias-Santiago S, Braza-Boils A, Martín-Martínez M, Gutierrez-Rodríguez M, Bernal JA, Zorio E, Jiménez-Jaimez J, Jalife J.   +18 more
europepmc   +7 more sources

Andersen–Tawil Syndrome Is Associated With Impaired PIP2 Regulation of the Potassium Channel Kir2.1 [PDF]

Frontiers in Pharmacology, 2020
Andersen–Tawil syndrome (ATS) type-1 is associated with loss-of-function mutations in KCNJ2 gene. KCNJ2 encodes the tetrameric inward-rectifier potassium channel Kir2.1, important to the resting phase of the cardiac action potential.
Reem Handklo-Jamal, Eshcar Meisel, Eshcar Meisel, Daniel Yakubovich, Daniel Yakubovich, Leonid Vysochek, Roy Beinart, Roy Beinart, Michael Glikson, Michael Glikson, Julie R. McMullen, Nathan Dascal, Eyal Nof, Eyal Nof, Shimrit Oz, Shimrit Oz   +15 more
doaj   +3 more sources

Unlocking the Secrets of Andersen–Tawil Syndrome: The Role of Next-Generation Sequencing in a Family With Long QT Syndrome [PDF]

Cardiology Research and Practice
Background Andersen–Tawil syndrome (ATS) is a rare inheritable potassium channelopathy, accompanied by ventricular arrhythmias due to long QT intervals, muscle weakness, and dysmorphic features.
Mansoor Namazi, Niloofar Naderi, Amir Askarinejad, Mohammad Dalili, Majid Maleki, Samira Kalayinia   +5 more
doaj   +3 more sources