Results 81 to 90 of about 72,610 (277)

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases [PDF]

, 2020
Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge.
Asano, Yoshihiro, Beerens, Manu, Burch, Micah L, Buys, Eva, Chiang, David Y, Cui, Shihe, Fujino, Noboru, Fujita, Takashi, Funada, Akira, Furusho, Hiroshi, Hayashi, Kenshi, Hodatsu, Akihiko, Inoue, Masaru, Kaku, Bunji, Kato, Takeshi, Kawashiri, Masa-aki, Kelly, Amy E, Kita, Yoshihito, Kiviniemi, Tuomas O, Kobayashi, Isao, Konno, Tetsuo, Kurata, Yasutaka, MacRae, Calum A, Nagata, Yoji, Nakanishi, Chiaki, Namura, Masanobu, Nomura, Akihiro, Oe, Kotaro, Okada, Hirofumi, Onoue, Kenji, Saito, Yoshihiko, Sakamoto, Yuichiro, Sakata, Kenji, Sips, Patrick, Tada, Hayato, Takamura, Masayuki, Takashima, Seiji, Takeda, Yuko, Tanaka, Yoshihiro, Teramoto, Ryota, Tsuchiya, Taketsugu, Tsuda, Toyonobu, Usuda, Keiich, Yamagishi, Masakazu, Zhao, Yanbin   +44 more
core   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Systems Pharmacology [PDF]

, 2008
The slides are from a presentation given by Professor Ravi Iyengar from Mount Sinai School of Medicine at the Drug Forum Meeting #9 that took place in Washington, DC on February 20-21, 2008.
Ravi Iyengar
core   +2 more sources

Artificial intelligence in preclinical epilepsy research: Current state, potential, and challenges

Epilepsia Open, EarlyView.
Abstract Preclinical translational epilepsy research uses animal models to better understand the mechanisms underlying epilepsy and its comorbidities, as well as to analyze and develop potential treatments that may mitigate this neurological disorder and its associated conditions. Artificial intelligence (AI) has emerged as a transformative tool across
Jesús Servando Medel‐Matus, Cesar Santana‐Gomez, Ruby G. Escalante, Dominique Duncan, Pedro F. Viana, Giulia Sofia Cereda, Naoto Kuroda, Aristea S. Galanopoulou   +7 more
wiley   +1 more source

Andersen-Tawil Syndrome [PDF]

, 2006
Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the α subunit of the potassium channel Kir2.1, were identified in patients ...
Smith, Andrew H, Fish, Frank A, Kannankeril, Prince J   +2 more
core   +1 more source

Antipsychotics and Torsadogenic Risk: Signals Emerging from the US FDA Adverse Event Reporting System Database [PDF]

, 2013
Background: Drug-induced torsades de pointes (TdP) and related clinical entities represent a current regulatory and clinical burden. Objective: As part of the FP7 ARITMO (Arrhythmogenic Potential of Drugs) project, we explored the publicly available US ...
A Bate, A Clarke, A Pariente, AK Chung, Ariola Koci, B Darpo, BJ Drew, C Meyer-Massetti, DM Roden, DW Hough, E Poluzzi, E Poluzzi, E Poluzzi, E Raschi, E Raschi, Edoardo Spina, Elijah R. Behr, Elisabetta Poluzzi, Emanuel Raschi, EP Puijenbroek van, ER Behr, F Ponti De, F Ponti De, F Rani, Fabrizio De Ponti, GC Alexander, GK Isbister, H Verdoux, J Nielsen, J Papay, K Jolly, K Titier, LC Wittkampf, LS Schneider, Miriam Sturkenboom, NP Tatonetti, P Kannankeril, P Manu, P Vigneault, RC Owens Jr, RR Shah, S Dhillon, S Hennessy, S Kongsamut, S Leucht, SM Straus, Ugo Moretti, W Crumb, W Crumb, WA Ray, WA Ray, WJ Crumb Jr, WP Stephenson, Y Suzuki   +53 more
core   +4 more sources

Assessing Clinical Severity and Prognosis in Adolescents With Anorexia Nervosa and Atypical Anorexia Nervosa Using the Albumin‐Globulin Ratio

European Eating Disorders Review, EarlyView.
ABSTRACT Objective The albumin‐globulin ratio (AGR) is a biochemical marker reflecting nutritional and inflammatory status, with significant prognostic value in chronic conditions. This study examined its association with clinical/biochemical markers in adolescents with anorexia nervosa (AN) and atypical AN (AAN).
Eylem Şerife Kalkan, Ayşe Bilge Baklaci, Yelda Kiliç, Sinem Akgül, Nilgün Özgül, Melis Pehlivanturk Kizilkan   +5 more
wiley   +1 more source

T-wave alternans in long QT syndrome

Annals of Pediatric Cardiology, 2018
Long QT syndrome (LQTS) is a congenital disorder characterized by prolongation of QT interval in the electrocardiogram (ECG) and a propensity to develop ventricular arrhythmias, which may lead to syncope, cardiac arrest or sudden death. T-wave alternans (
Siddharth Narayan Gadage
doaj   +1 more source

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. [PDF]

, 2017
BACKGROUND: Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology.
Ackerman, Aken, Antzelevitch, Arthur A.M. Wilde, Bagnall, Bagnall, Bee Y. Soh, Behr, Behr, Behr, Bezzina, Bezzina, Bo G. Winkel, Cerrone, Chee J. Pua, Christian van der Werf, Connie R. Bezzina, Della Cole, Donald R. Love, Efstathios Papatheodorou, Elijah R. Behr, Elisabeth M. Lodder, Gladding, Greg Mellor, Hariharan Raju, Hayashi, Herman, Hertz, Jackie Crawford, Jacob Tfelt-Hansen, James S. Ware, Jan Till, Jaydutt D. Bhalshankar, Jonathan R. Skinner, Kircher, Lahrouchi, Maria Tome-Esteban, Marta C. Cohen, Mary N. Sheppard, Mellor, Methner, Michael Papadakis, Miles, Najim Lahrouchi, Nunn, Priori, Pua, Rafik Tadros, Richards, Risha Govind, Rizzo, Sanjay Sharma, Semsarian, Skinner, Stuart A. Cook, Task Force for the Diagnosis and Management of Syncope, European Society of Cardiology (ESC), European Heart Rhythm Association (EHRA), Walsh, Wang, Winkel, Wu, Yanushi D. Wijeyeratne, Zhan   +61 more
core   +3 more sources

Clarithromycin-Induced Long QT Syndrome: A Case Report

Case Reports in Medicine, 2012
Long QT syndrome develops for a number of reasons. The number of non-antiarrhythmic drugs reported to induce QT interval prolongation with or without torsade de pointes continues to increase.
Mecnun Cetin, Munevver Yıldırımer, Serkan Özen, Sema Tanrıverdi, Senol Coskun   +4 more
doaj   +1 more source