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American Journal of Physiology - Heart and Circulatory Physiology, ISSN 0363-6135, 01/2007, Volume 292, Issue 1, pp. 66 - 75
Pharmacological management of cardiac arrhythmias has been a long and widely sought goal. One of the difficulties in treating arrhythmia stems, in part, from... 
Channelopathies | Sodium channel | Theoretical model | Genetic mutations | Cardiac arrhythmias | Long-QT syndrome | Pharmacology | Markov model | Computational biology | computational biology | COMMON MOLECULAR DETERMINANTS | genetic mutations | CARDIAC & CARDIOVASCULAR SYSTEMS | PHYSIOLOGY | PIG VENTRICULAR MYOCYTES | channelopathies | CARDIAC NA+ CHANNELS | SINGLE SODIUM-CHANNELS | MAMMALIAN-CELLS | long-QT syndrome | theoretical model | BRUGADA-SYNDROME | sodium channel | LOCAL-ANESTHETICS | pharmacology | FLECAINIDE CHALLENGE | LIDOCAINE BLOCK | PERIPHERAL VASCULAR DISEASE | cardiac arrhythmias | Pharmacogenetics - methods | Models, Cardiovascular | Humans | Treatment Outcome | Drug Therapy, Computer-Assisted - methods | Heart Conduction System - drug effects | Structure-Activity Relationship | Anti-Arrhythmia Agents - pharmacokinetics | Anti-Arrhythmia Agents - administration & dosage | Arrhythmias, Cardiac - physiopathology | Dose-Response Relationship, Drug | Heart Rate - drug effects | Arrhythmias, Cardiac - drug therapy | Animals | Heart Conduction System - physiopathology | Computer Simulation | Sodium Channels - metabolism | Sodium Channels - genetics | Mutation | Action Potentials - drug effects | Ion Channel Gating - drug effects | Cardiac arrhythmia | Cardiovascular disease | Drug therapy | Research & development--R&D | Index Medicus
Journal Article
Brain, ISSN 0006-8950, 2010, Volume 133, Issue 9, pp. 2734 - 2748
Antibodies that immunoprecipitate I-125-alpha-dendrotoxin-labelled voltage-gated potassium channels extracted from mammalian brain tissue have been identified... 
autoimmune encephalitis | epilepsy | VGKC | neuromuscular junction | Lgi1 | neuronal autoantibodies | Caspr2 | thymoma | LOCALIZATION | TEMPORAL-LOBE EPILEPSY | AUTOIMMUNE CHANNELOPATHIES | DISORDERS | ISAACS SYNDROME | NEUROSCIENCES | CLINICAL NEUROLOGY | MYELINATED AXONS | SYNAPSES | SPECTRUM | K+ CHANNELS | Immunotherapy - methods | Membrane Potentials - genetics | Isaacs Syndrome - blood | Humans | Middle Aged | Male | Syringomyelia - drug therapy | Green Fluorescent Proteins - genetics | Hippocampus - drug effects | Patch-Clamp Techniques - methods | Isaacs Syndrome - immunology | Limbic Encephalitis - pathology | Proteins | Young Adult | Transfection - methods | Antibody Specificity - immunology | Protein Binding - drug effects | Elapid Venoms - pharmacokinetics | Neurons - physiology | Aged, 80 and over | Adult | Female | Neurons - metabolism | Neurons - drug effects | Limbic Encephalitis - immunology | Membrane Potentials - drug effects | Severity of Illness Index | Limbic Encephalitis - blood | Syringomyelia - blood | Immunoprecipitation - methods | Nerve Tissue Proteins - immunology | Gene Expression Regulation - genetics | Iodine Isotopes - pharmacokinetics | Isaacs Syndrome - drug therapy | Membrane Proteins - immunology | Treatment Outcome | Antibodies - pharmacology | Hippocampus - metabolism | Limbic Encephalitis - drug therapy | Syringomyelia - immunology | Adolescent | Antibodies - blood | Aged | Cell Line, Transformed | Shaker Superfamily of Potassium Channels - immunology | Protein Binding - physiology | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2013, Volume 369, Issue 4, pp. 351 - 361
Journal Article
Gastroenterology, ISSN 0016-5085, 06/2014, Volume 146, Issue 7, pp. 1659 - 1668
encodes the α-subunit of the voltage-gated sodium channel Na 1.5. Many patients with cardiac arrhythmias caused by mutations in also have symptoms of irritable... 
GI Motility | Voltage-Gated Sodium Channel | Genetics | Polymorphism | Constipation - genetics | Prevalence | Prospective Studies | Channelopathies - physiopathology | Channelopathies - epidemiology | Diarrhea - physiopathology | Humans | Middle Aged | Constipation - metabolism | Gastrointestinal Motility - drug effects | Diarrhea - epidemiology | Male | NAV1.5 Voltage-Gated Sodium Channel - metabolism | Channelopathies - metabolism | Mutation, Missense | Case-Control Studies | Young Adult | Channelopathies - diagnosis | Transfection | DNA Mutational Analysis | Irritable Bowel Syndrome - diagnosis | NAV1.5 Voltage-Gated Sodium Channel - drug effects | HEK293 Cells | Voltage-Gated Sodium Channel Blockers - therapeutic use | Adult | Female | Irritable Bowel Syndrome - epidemiology | NAV1.5 Voltage-Gated Sodium Channel - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Irritable Bowel Syndrome - metabolism | Risk Factors | Constipation - epidemiology | Gastrointestinal Motility - genetics | Irritable Bowel Syndrome - drug therapy | Constipation - physiopathology | Irritable Bowel Syndrome - physiopathology | Irritable Bowel Syndrome - genetics | Channelopathies - genetics | Phenotype | Channelopathies - drug therapy | Membrane Potentials | Diarrhea - genetics | Adolescent | Diarrhea - metabolism | Aged | Index Medicus | Abridged Index Medicus | polymorphism | genetics | GI motility | voltage-gated sodium channel | Medical and Health Sciences | Medicin och hälsovetenskap
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2016, Volume 117, Issue 1, pp. 42 - 48
We describe neurotransmitter abnormalities in two patients with drug-resistant epilepsy resulting from deleterious de novo mutations in sodium channel genes.... 
Nav1.6 | Therapy | Dopamine | Serotonin | Channelopathy | Nav1.2 | SCN8A | SCN2A | Seizures | 1.2 | 1.6 | MEDICINE, RESEARCH & EXPERIMENTAL | Na(v)1.2 | HUMAN BRAIN | CLINICAL SPECTRUM | SCN2A MUTATIONS | NEUROLOGICAL DISORDERS | CEREBROSPINAL-FLUID | INTELLECTUAL DISABILITY | ENCEPHALOPATHY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | CHANNELS | Na(v)1.6 | Seizures - genetics | Humans | Tetrahydrofolates - cerebrospinal fluid | Hydroxyindoleacetic Acid - cerebrospinal fluid | Epilepsy - metabolism | Male | Channelopathies - metabolism | Mutation, Missense | Autistic Disorder - etiology | Drug Resistant Epilepsy - drug therapy | Muscle Hypotonia - etiology | Exome | Epilepsy - genetics | Female | Homovanillic Acid - cerebrospinal fluid | Child | Sodium Channels - deficiency | Autistic Disorder - genetics | Drug Resistant Epilepsy - metabolism | Muscle Hypotonia - genetics | Receptors, Dopamine - metabolism | NAV1.2 Voltage-Gated Sodium Channel - genetics | Neurotransmitter Agents - metabolism | Neurotransmitter Agents - deficiency | Sequence Analysis, DNA | Channelopathies - drug therapy | Seizures - etiology | Epilepsy - drug therapy | NAV1.6 Voltage-Gated Sodium Channel - genetics | Sodium Channels - genetics | GABA | Cellular signal transduction | Seizures (Medicine) | Analysis | Epilepsy | Index Medicus
Journal Article
Journal Article
Journal Article
Journal Article
by Platzer, Konrad and Yuan, Hongjie and Schütz, Hannah and Winschel, Alexander and Chen, Wenjuan and Hu, Chun and Kusumoto, Hirofumi and Heyne, Henrike O and Helbig, Katherine L and Tang, Sha and Willing, Marcia C and Tinkle, Brad T and Adams, Darius J and Depienne, Christel and Keren, Boris and Mignot, Cyril and Frengen, Eirik and Strømme, Petter and Biskup, Saskia and Döcker, Dennis and Strom, Tim M and Mefford, Heather C and Myers, Candace T and Muir, Alison M and LaCroix, Amy and Sadleir, Lynette and Scheffer, Ingrid E and Brilstra, Eva and van Haelst, Mieke M and van der Smagt, Jasper J and Bok, Levinus A and Møller, Rikke S and Jensen, Uffe B and Millichap, John J and Berg, Anne T and Goldberg, Ethan M and De Bie, Isabelle and Fox, Stephanie and Major, Philippe and Jones, Julie R and Zackai, Elaine H and Abou Jamra, Rami and Rolfs, Arndt and Leventer, Richard J and Lawson, John A and Roscioli, Tony and Jansen, Floor E and Ranza, Emmanuelle and Korff, Christian M and Lehesjoki, Anna-Elina and Courage, Carolina and Linnankivi, Tarja and Smith, Douglas R and Stanley, Christine and Mintz, Mark and McKnight, Dianalee and Decker, Amy and Tan, Wen-Hann and Tarnopolsky, Mark A and Brady, Lauren I and Wolff, Markus and Dondit, Lutz and Pedro, Helio F and Parisotto, Sarah E and Jones, Kelly L and Patel, Anup D and Franz, David N and Vanzo, Rena and Marco, Elysa and Ranells, Judith D and Di Donato, Nataliya and Dobyns, William B and Laube, Bodo and Traynelis, Stephen F and Lemke, Johannes R
Journal of Medical Genetics, ISSN 0022-2593, 07/2017, Volume 54, Issue 7, pp. 460 - 470
Journal Article