Results 21 to 30 of about 9,985 (188)

A review of potassium channels in bipolar disorder

Frontiers in Genetics, 2013
Although bipolar disorder (BP) is one of the most heritable psychiatric conditions, susceptibility genes for the disorder have yet to be conclusively identified.
Jennifer Toolan Judy, Peter eZandi, Peter eZandi   +2 more
doaj   +1 more source

Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4

Frontiers in Neurology, 2020
Sodium channel myotonia is a form of muscle channelopathy due to mutations that affect the Nav1.4 channel. We describe seven families with a series of symptoms ranging from asymptomatic to clearly myotonic signs that have in common two novel mutations, p.
Serena Pagliarani, Sabrina Lucchiari, Marina Scarlato, Elisa Redaelli, Anna Modoni, Francesca Magri, Barbara Fossati, Stefano C. Previtali, Valeria A. Sansone, Marzia Lecchi, Mauro Lo Monaco, Mauro Lo Monaco, Giovanni Meola, Giacomo P. Comi, Giacomo P. Comi   +14 more
doaj   +1 more source

Congenital long QT syndrome: A challenging diagnosis by fetal echocardiography

Annals of Pediatric Cardiology, 2022
The diagnosis of long QT syndrome (LQTS) in utero presents many challenges for clinicians, and there is high risk for intrauterine fetal demise as life-threatening arrhythmias develop secondary to QT prolongation.
Aura Daniella Santi, Miguel Restrepo
doaj   +1 more source

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes [PDF]

, 2021
BACKGROUND: KCNC1 encodes Kv3.1, a subunit of the Kv3 voltage-gated potassium channels. It is predominantly expressed in inhibitory GABAergic interneurons and cerebellar neurons.
Petrou, S, Zhao, C, Sun, C, Li, X, Lu, J, Zhang, VW, Zheng, Y, Li, S, Nair, U, Maljevic, S, Lin, J   +10 more
core   +1 more source

Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review [PDF]

, 2022
Brugada syndrome (BrS) is classified as an inherited cardiac channelopathy attributed to dysfunctional ion channels and/or associated proteins in cardiomyocytes rather than to structural heart alterations.
Ramon Brugada, Elena Arbelo, Cesar, Sergi, Arbelo, Elena, Perez-Serra, Alexandra, Brugada, Josep, Campuzano, Oscar, Hernández, Clara, Fiol, Victoria, Josep Brugada, Coll Vidal, Mònica, Victoria Fiol, José Cruzalegui, Oscar Campuzano, Sarquella-Brugada, Georgia, Sarquella Brugada, Geòrgia, Cruzalegui, Jose Carlos, Simone Grassi, Anna Iglesias, Cazzato, Francesca, Brugada Terradellas, Josep, Oliva, Antonio, Sergi Cesar, Arena, Vincenzo, Vincenzo Arena, Georgia Sarquella-Brugada, Iglesias, Anna, Díez-Escuté, Nuria, Alcalde, Mireia, Cruzalegui, José, Mireia Alcalde, Pinchi, Vilma, Mónica Coll, Grassi, Simone, Vallverdú-Prats, Marta, Estefanía Martínez-Barrios, Nuria Díez-Escuté, Martínez-Barrios, Estefanía, Marta Vallverdú-Prats, Alexandra Perez-Serra, Clara Hernández, Hernández Cera, Clara, Campuzano Larrea, Oscar, Coll, Mónica, Vilma Pinchi, Antonio Oliva, Francesca Cazzato, Brugada, Ramon, Alcalde Masegu, Mireia   +48 more
core   +2 more sources

Underlying Piezo2 Channelopathy-Induced Neural Switch of COVID-19 Infection. [PDF]

Cells
The reported focal “hot spot” neuropathologies in COVID-19 infection is revealing footprints of a hidden underlying collapse of a novel ultrafast Piezo signaling system within the nervous system.
Sonkodi B.
europepmc   +3 more sources

Functional Regulation of KATP Channels and Mutant Insight Into Clinical Therapeutic Strategies in Cardiovascular Diseases

Frontiers in Pharmacology, 2022
ATP-sensitive potassium channels (KATP channels) play pivotal roles in excitable cells and link cellular metabolism with membrane excitability. The action potential converts electricity into dynamics by ion channel-mediated ion exchange to generate ...
Zhicheng Wang, Weikang Bian, Yufeng Yan, Dai-Min Zhang, Dai-Min Zhang   +4 more
doaj   +1 more source

Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. [PDF]

, 2009
BACKGROUND AND PURPOSE: Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal muscle sodium channelopathy.
최영철
core   +1 more source

Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder

Case Reports in Neurological Medicine, 2016
Objective. To describe the use of an advanced genetic testing technique, whole exome sequencing, to diagnose a patient and their family with a SCN9A channelopathy. Setting. Academic tertiary care center. Design. Case report. Case Report.
Ashley Cannon, Svetlana Kurklinsky, Kimberly J. Guthrie, Douglas L. Riegert-Johnson   +3 more
doaj   +1 more source

A common co-morbidity modulates disease expression and treatment efficacy in inherited cardiac sodium channelopathy [PDF]

, 2018
Aims Management of patients with inherited cardiac ion channelopathy is hindered by variability in disease severity and sudden cardiac death (SCD) risk.
Arthur A M Wilde, Belardinelli, Luiz, Eline A Nannenberg, van der Made, Ingeborg, van den Berg, Maarten P., Wilde, Arthur A. M., Postema, Pieter G, Tanck, Michael W. T., Maarten P van den Berg, Tanck, Michael W T, Postema, Pieter G., Michael W T Tanck, van den Berg, Maarten P, Creemers, Esther E, Wilde, Arthur A M, Gerard A Marchal, Luiz Belardinelli, van Veen, Toon A B, Rivaud, Mathilde R., John A Jansen, Nannenberg, Eline A, van Tintelen, J Peter, Sridharan Rajamani, de Bakker, Jacques M T, Mizusawa, Yuka, Remme, Carol Ann, Mathilde R Rivaud, van Rijen, Harold V., Esther E Creemers, Toon A B van Veen, Nannenberg, Eline A., van der Wal, Allard C, Roel van der Nagel, Rajamani, Sridharan, Rianne Wolswinkel, Allard C van der Wal, Jansen, John A, Creemers, Esther E., van der Nagel, Roel, Jacques M T de Bakker, Bezzina, Connie R., Harold V van Rijen, Rivaud, Mathilde R, Bezzina, Connie R, Marchal, Gerard A., Ingeborg van der Made, Pieter G Postema, van DerWal, Allard C., Marchal, Gerard A, van den Berg, Maarten P; id_orcid, van Tintelen, J. Peter, Wolswinkel, Rianne, Yuka Mizusawa, van Veen, Toon A. B., Jansen, John A., van Rijen, Harold V, J Peter van Tintelen, Connie R Bezzina, Carol Ann Remme, de Bakker, Jacques M. T.   +59 more
core   +3 more sources