Results 51 to 60 of about 18,132 (269)

Sodium and chloride channelopathies with myositis:Coincidence or connection? [PDF]

, 2011
Introduction: A proximal myopathy develops in some patients with muscle channelopathies, but the causative molecular mechanisms are unknown. Methods: We reviewed retrospectively all clinical and muscle biopsy findings of 3 patients with channelopathy and
Arzel-Hezode, Becker, Bradley, Buruma, Colding-Jorgensen, Emery, Fialho, Fontaine, Fournier, George, Hilton-Jones, Links, Matthews, Miller, Nagamitsu, Plassart, Plassart, Ptacek, Ptacek, Rosenfeld, Tidball, Trip, Vicart   +22 more
core   +1 more source

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

Annals of Translational Medicine, 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. Kv3.1 channelopathy has been linked to a variety of human diseases including
Xiaoyang Li, Yongsheng Zheng, Shaoyuan Li, U. Nair, Chong Sun, Chongbo Zhao, Jiahong Lu, V. Zhang, S. Maljevic, S. Petrou, Jie Lin   +10 more
semanticscholar   +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

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

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

Downbeat nystagmus: aetiology and comorbidity in 117 patients [PDF]

, 2008
Objectives: Downbeat nystagmus (DBN) is the most common form of acquired involuntary ocular oscillation overriding fixation. According to previous studies, the cause of DBN is unsolved in up to 44% of cases.
Brandt, Thomas, Glaser, Mirjam, Strupp, Michael, Wagner, Judith N.   +3 more
core   +1 more source

Channelopathy of Dravet Syndrome and Potential Neuroprotective Effects of Cannabidiol

Journal of Central Nervous System Disease, 2021
Dravet syndrome (DS) is a channelopathy, neurodevelopmental, epileptic encephalopathy characterized by seizures, developmental delay, and cognitive impairment that includes susceptibility to thermally induced seizures, spontaneous seizures, ataxia ...
Changqing Xu, Yumin Zhang, D. Gozal, Paul R. Carney   +3 more
semanticscholar   +1 more source

Neuron-restrictive silencer factor-mediated hyperpolarization-activated cyclic nucleotide gated channelopathy in experimental temporal lobe epilepsy. [PDF]

, 2011
ObjectiveEnduring, abnormal expression and function of the ion channel hyperpolarization-activated cyclic adenosine monophosphate gated channel type 1 (HCN1) occurs in temporal lobe epilepsy (TLE).
Baram, Tallie Z, Bernard, Christophe, Dubé, Celine, Esclapez, Monique, Flynn, Corey, Ghestem, Antoine, McClelland, Shawn, Richichi, Cristina, Zha, Qinqin   +8 more
core   +2 more sources

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