Results 51 to 60 of about 4,944 (184)

Inwardly Rectifying Potassium Channel Kir2.1 and its “Kir-ious” Regulation by Protein Trafficking and Roles in Development and Disease

Frontiers in Cell and Developmental Biology, 2022
Potassium (K+) homeostasis is tightly regulated for optimal cell and organismal health. Failure to control potassium balance results in disease, including cardiac arrythmias and developmental disorders.
Natalie A. Hager, Ceara K. McAtee, Mitchell A. Lesko, Allyson F. O’Donnell   +3 more
doaj   +1 more source

Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. [PDF]

, 2014
IntroductionAndersen-Tawil syndrome (ATS) is a potassium channelopathy affecting cardiac and skeletal muscle. Periodic paralysis is a presenting symptom in some patients, whereas, in others, symptomatic arrhythmias or prolongation of QT in ...
Bieganowska, Katarzyna, Bienias, Piotr, Kaminska, Anna, Kostera-Pruszczyk, Anna, Lee, Hsien-Yang, Miszczak-Knecht, Maria, Ploski, Rafal, Potulska-Chromik, Anna, Pruszczyk, Piotr, Ptáček, Louis J, Quinn, Emily, Szczałuba, Krzysztof   +11 more
core   +2 more sources

European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders

European Journal of Neurology, Volume 29, Issue 12, Page 3486-3507, December 2022., 2022
This consensus statement summarizes the most important recommendations concerning anaesthesia in patients with neuromuscular disorders. Abstract Background and purpose Patients with neuromuscular conditions are at increased risk of suffering perioperative complications related to anaesthesia.
Luuk R. van den Bersselaar, Luc Heytens, Helga C. A. Silva, Jens Reimann, Giorgio Tasca, Óscar Díaz‐Cambronero, Nicoline Løkken, Anna Hellblom, Philip M. Hopkins, Henrik Rueffert, Börge Bastian, Juan Jesus Vilchez, Robyn Gillies, Stephan Johannsen, Francis Veyckemans, Tino Muenster, Andrea Klein, Ron Litman, Heinz Jungbluth, Sheila Riazi, Nicol C. Voermans, Marc M. J. Snoeck   +21 more
wiley   +1 more source

Markedly reduced ventricular arrhythmia during the peripartum period in a pregnant woman with Andersen-Tawil syndrome

Journal of Arrhythmia, 2012
Andersen-Tawil syndrome (ATS), also known as long QT syndrome type 7, is a rare autosomal dominant disease caused by a KCNJ2 mutation. The characteristic triad of ATS is periodic paralysis, dysmorphic features, and ventricular arrhythmia.
Chizuko A. Kamiya, Wataru Shimizu, Yoshinari Kabayashi, Takekazu Miyoshi, Chinami Horiuchi, Takashi Umekawa, Kaoru Yamanaka, Reiko Neki, Shinji Katsuragi, Jun Yoshimatsu, Tomoaki Ikeda   +10 more
doaj   +1 more source

COVID‐19 infection and vaccination in patients with skeletal muscle channelopathies

Muscle &Nerve, Volume 66, Issue 5, Page 617-620, November 2022., 2022
Abstract Introduction/Aims Although we have gained insight into coronavirus disease‐2019 (COVID‐19) caused by severe acute respiratory syndrome–coronavirus 2 since the beginning of the pandemic, our understanding of the consequences for patients with neuromuscular disorders is evolving.
Vinojini Vivekanandam, Dipa Jayaseelan, Michael G. Hanna   +2 more
wiley   +1 more source

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]

, 2018
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core   +1 more source

Long QT syndrome in a neonate [PDF]

, 2015
Congenital long QT syndrome (cLQTS) is a channelopathy characterized by ventricular repolarization disturbances. The clinical presentation varies from an asymptomatic patient to a patient with recurrent syncopes, seizures, and even sudden death.
Morales Rodríguez, Idelma Berenise, Rodríguez Balderrama, Isaías, Rodríguez Bonito, Rogelio, Rodríguez Martínez, V.   +3 more
core   +1 more source

Genetic neurological channelopathies: molecular genetics and clinical phenotypes [PDF]

, 2015
Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact ...
Hanna, MG, Kullmann, DM, Spillane, J
core   +1 more source

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly [PDF]

, 2016
Background: Neurodevelopmental disorders have challenged clinical genetics for decades, with over 700 genes implicated and many whose function remains unknown. The application of whole-exome sequencing is proving pivotal in closing the genotype/phenotype
Anne Debant, Ba, Barbelanne, Bellanger, Bragin, Briançon-Marjollet, Cannet, Catherine Mercer, Chhatriwala, Christine Fagotto-Kaufmann, David Goudie, de Ligt, DeLano, Dent, Dent, Deo, Diana Baralle, Eleanor G Seaby, Estrach, Etienne-Manneville, Govek, Grix, Hu, Huber, M Reza Jabalameli, Ma, McLaren, McPherson, Mercer, Michael J Parker, O'Brien, Peng, Pengelly, Pengelly, Portales-Casamar, Reuben J Pengelly, Robinson, Sarah Ennis, Sarju G Mehta, Schmidt, Skowronek, Stephanie Greville-Heygate, Susanne Schmidt, van Bokhoven, van Haren, Zong   +45 more
core   +5 more sources