Results 71 to 80 of about 2,073 (179)

Chronic Propafenone Application Increases Functional K_IR2.1 Expression In Vitro

Pharmaceuticals, 2023
Expression and activity of inwardly rectifying potassium (KIR) channels within the heart are strictly regulated. KIR channels have an important role in shaping cardiac action potentials, having a limited conductance at depolarized potentials but ...
Encan Li, Willy Kool, Liset Woolschot, Marcel A. G. van der Heyden   +3 more
doaj   +1 more source

Resuscitated sudden cardiac death in Andersen-Tawil syndrome [PDF]

Heart Rhythm, 2009
Andersen-Tawil Syndrome (ATS) is an autosomal dominant or sporadic disorder characterized by ventricular arrhythmias, periodic paralysis and distinctive facial and skeletal dysmorphology [1-3]. ATS is notable for its variable penetrance (not all subjects manifest all three phenotypes) and variable expressivity (the severity of the expressed phenotype ...
Kelly J, Airey, Susan P, Etheridge, Rabi, Tawil, Martin, Tristani-Firouzi   +3 more
openaire   +2 more sources

Supportive and symptomatic management of amyotrophic lateral sclerosis [PDF]

, 2016
The main aims in the care of individuals with amyotrophic lateral sclerosis (ALS) are to minimize morbidity and maximize quality of life. Although no cure exists for ALS, supportive and symptomatic care provided by a specialist multidisciplinary team can
A Alonso, A Chio, A Chio, A Chio, A Gauthier, A Hogden, A Jawaid, A Kheder, A Kurt, A Pinto, A Pizzimenti, A Szczudlik, A-C Heritier Barras, A-M Wills, AA Suárez, AC Tzeng, AE Renton, AM Stiggelbout, B Funalot, B Marin, B Whitehead, BR Brooks, C Bouteloup, C Terzano, C-S Hwang, CE Jackson, Christopher J. McDermott, CL O'Neill, DA Restivo, DJ Berlowitz, DJ Lange, DJ Oliver, E Majounie, E Neppelberg, EK Plowman, EK Plowman, EK Plowman, EP Pioro, Esther V. Hobson, EV Hobson, EV Hobson, G Bensimon, G Marquardt, G Marquardt, H Hayashi, H Reed, J Brettschneider, J Cooper-Knock, J Gonzalez-Bermejo, J Johnson, J Rooney, J Sancho, J Sancho, J-WG Meijer, JC Desport, JC Roche, JG Rabkin, JM Shefner, JP Gallagher, JP Van den Berg, L Genton, L Mackenzie, L McCluskey, LH Goldstein, M DeJesus-Hernandez, M Elamin, M Fried-Oken, M Marchetti, M O'Brien, M Peters, MA Del Aguila, MD Weiss, MK Rafiq, MK Rafiq, MR O'Brien, N Guy, NL Ashworth, O Dogu, P Barbero, P Carratù, P Craig, P Wicks, P Wicks, PH Gordon, PJ Zettler, PS Group, R Baldinger, R Balendra, R Spataro, RG Miller, RG Miller, RS Bedlack, S Abrahams, S Baxter, S Connolly, S El-Tawil, S Iannaccone, S McClelland, S Paganoni, SC Bourke, SC Bourke, SC Woolley, SK Baxter, SK Baxter, SK Baxter, SM Aoun, T Aridegbe, T Mills, T Stavroulakis, T Stavroulakis, T Stavroulakis, VE Drory   +111 more
core   +1 more source

Andersen–Tawil syndrome

Neurology, 2005
To evaluate clinical, genetic, and electrophysiologic features of patients with Andersen-Tawil syndrome (ATS) in the United Kingdom.Clinical and neurophysiologic evaluation was conducted of 11 families suspected to have ATS. Molecular genetic analysis of each proband was performed by direct DNA sequencing of the entire coding region of KCNJ2.
Davies, N. P., Fialho, D., Herd, C., Bilsland, L. G., Weber, A., Mueller, R., Hilton Jones, D., Ealing, J., Boothman, B. R., Giunti, P., Parsons, L. M., Thomas, M., Manzur, A. Y., Jurkat Rott, K., Lehmann Horn, F., Chinnery, P. F., Rose, M., Kullmann, D. M., Hanna, M. G., IMBRICI, Paola   +19 more
openaire   +4 more sources

Hyperthyroid Hypokalemic Periodic Paralysis in a Nepali Male; A Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Hyperthyroid Hypokalemic Periodic Paralysis (HHPP), marked by acute weakness and hypokalemia. Prompt potassium replacement and hyperthyroidism management are essential to prevent life‐threatening outcomes. This case highlights its presentation in a Nepali male, reinforcing the need for high clinical suspicion.
Ashish Tamang, Prakash Sapkota, Sankalpa Humagain, Kemisha Dhakal, Chhavi Sachdeva, Deshant Shah, Prakriti Lamsal   +6 more
wiley   +1 more source

Definitions of the phenotypic manifestations of sickle cell disease. [PDF]

, 2009
Sickle cell disease (SCD) is a pleiotropic genetic disorder of hemoglobin that has profound multiorgan effects. The low prevalence of SCD ( approximately 100,000/US) has limited progress in clinical, basic, and translational research.
Adams, Albers, Ataga, Ballas, Ballas, Ballas, Ballas, Barnett, Benjamin, Benjamin, Bhalla, Castro, Dampier, De Castro, Eichhorn, Emond, Frenette, Gill, Gladwin, Hatton, Hern��ndez, Kato, Kato, Kato, Kinney, Leikin, Lisbona, Maitre, Manci, Moser, Orringer, Pappo, Petz, Platt, Platt, Seeler, Serjeant, Sheehy, Solanki, Tomlinson, Vichinsky   +40 more
core   +2 more sources

Andersen-Tawil syndrome — Periodic paralysis with dysmorphism

Indian Pediatrics, 2011
Andersen Tawil syndrome is a rare type of channelopathy characterized by the presence of periodic paralysis, cardiac arrhythmia (prolonged QT interval or ventricular arrhythmia) and distinct dysmorphic abnormalities. It is a type of potassium channelopathy that occurs sporadically or by autosomal dominant inheritance.
Mahesh, Kamate, Vivek, Chetal
openaire   +2 more sources

Severe exacerbation of Andersen–Tawil syndrome secondary to thyrotoxicosis [PDF]

Journal of Human Genetics, 2014
Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism characterized by episodes of weakness. Although TPP has been described in patients all over the world, it is especially frequent in Asiatic patients. Recently, two genomewide association studies have found a susceptibility locus on chromosome 17q24.3 near the KCNJ2 gene ...
Diaz-Manera J, Querol L, Alejaldre A, Rojas-Garcia R, Ramos-Fransi A, Gallardo E, Illa I   +6 more
openaire   +4 more sources

Exploring the perspectives and voices of students with autism on the academic adjustments they receive: A systematic review

Journal of Research in Special Educational Needs, Volume 25, Issue 4, Page 958-972, October 2025.
Abstract As the number of students with autism enrolled in general education increases, there remains a need to support their academic achievement. While much of the existing literature presents the ways that teachers can support the social, emotional or sensory needs of students with autism, research into the academic supports for school‐aged students
Aidan McKeegan, Jessica Zoe Zanuttini
wiley   +1 more source

A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1

Frontiers in Cellular Neuroscience, 2018
Inwardly rectifying potassium channels (Kir) have been historically associated to several cardiovascular disorders. In particular, loss-of-function mutations in the Kir2.1 channel have been reported in cases affected by Andersen-Tawil syndrome while gain-
Anna Binda, Ilaria Rivolta, Chiara Villa, Elisa Chisci, Massimiliano Beghi, Cesare M. Cornaggia, Roberto Giovannoni, Romina Combi   +7 more
doaj   +1 more source