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The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
- Published in:
- 2008
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- Publication type:
- journal article
Inherited disorders of voltage-gated sodium channels.
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- 2005
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- Publication type:
- journal article
Striatal Kir2 K+ channel inhibition mediates the antidyskinetic effects of amantadine.
- Published in:
- 2020
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- Publication type:
- journal article
Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.
- Published in:
- 2018
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- Publication type:
- journal article
Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability.
- Published in:
- 2017
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- Publication type:
- journal article
THE GENETIC BASIS OF VARIABILITY IN DRUG RESPONSES.
- Published in:
- Nature Reviews Drug Discovery, 2002, v. 1, n. 1, p. 37, doi. 10.1038/nrd705
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- Publication type:
- Article
Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36087-x
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- Publication type:
- Article
Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2761, doi. 10.1093/brain/awae125
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- Publication type:
- Article
Epilepsy-Associated Dysfunction in the Voltage-Gated Neuronal Sodium Channel SCN1A.
- Published in:
- Journal of Neuroscience, 2003, v. 23, n. 36, p. 11289, doi. 10.1523/JNEUROSCI.23-36-11289.2003
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- Publication type:
- Article
Antiepileptic activity of preferential inhibitors of persistent sodium current.
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- Epilepsia (Series 4), 2014, v. 55, n. 8, p. 1274, doi. 10.1111/epi.12657
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- Publication type:
- Article
SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs.
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- Epilepsia (Series 4), 2011, v. 52, n. 5, p. 1000, doi. 10.1111/j.1528-1167.2011.03040.x
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- Publication type:
- Article
Impaired Na<sub>V</sub>1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.
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- Epilepsia (Series 4), 2008, v. 49, n. 9, p. 1535, doi. 10.1111/j.1528-1167.2008.01619.x
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- Publication type:
- Article
Nonfunctional SCN1A Is Common in Severe Myoclonic Epilepsy of Infancy.
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- Epilepsia (Series 4), 2006, v. 47, n. 10, p. 1636, doi. 10.1111/j.1528-1167.2006.00643.x
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- Publication type:
- Article
Allelic Complexity in Long QT Syndrome: A Family-Case Study.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 8, p. 1633, doi. 10.3390/ijms18081633
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- Publication type:
- Article
Molecular and genetic basis of sudden cardiac death.
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- Journal of Clinical Investigation, 2013, v. 123, n. 1, p. 75, doi. 10.1172/JCI62928
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- Publication type:
- Article
Leaky channels make weak muscles.
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- Journal of Clinical Investigation, 2012, v. 122, n. 12, p. 9, doi. 10.1172/JCI66535
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- Publication type:
- Article
KCNE4 domains required for inhibition of KCNQ1.
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- Journal of Physiology, 2009, v. 587, n. 2, p. 303, doi. 10.1113/jphysiol.2008.161281
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- Publication type:
- Article
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic–clonic seizures.
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- Journal of Physiology, 2005, v. 569, n. 2, p. 433, doi. 10.1113/jphysiol.2005.094326
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- Publication type:
- Article
Functional interaction between extracellular sodium, potassium and inactivation gating in HERG channels.
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- Journal of Physiology, 2004, v. 558, n. 3, p. 729, doi. 10.1113/jphysiol.2004.065193
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- Publication type:
- Article
Different flecainide sensitivity of hNa<sub>v</sub> 1.4 channels and myotonic mutants explained by state-dependent block.
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- Journal of Physiology, 2004, v. 554, n. 2, p. 321, doi. 10.1113/jphysiol.2003.046995
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- Publication type:
- Article
Functional characterization of recombinant human ClC-4 chloride channels in cultured mammalian cells.
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- Journal of Physiology, 2002, v. 539, n. 2, p. 373, doi. 10.1113/jphysiol.2001.013115
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- Publication type:
- Article
Differential effects of homologous S4 mutations in human skeletal muscle sodium channels on deactivation gating from open and inactivated states.
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- Journal of Physiology, 1999, v. 516, n. 3, p. 687, doi. 10.1111/j.1469-7793.1999.0687u.x
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- Publication type:
- Article
Dyshomeostatic modulation of Ca<sup>2+</sup>- activated K<sup>+</sup> channels in a human neuronal model of KCNQ2 encephalopathy.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.64434
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- Publication type:
- Article
Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation.
- Published in:
- eLife, 2020, p. 1, doi. 10.7554/eLife.57680
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- Publication type:
- Article
LETTERS AND CORRECTIONS.
- Published in:
- Annals of Internal Medicine, 1987, v. 106, n. 3, p. 472
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- Publication type:
- Article
Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2496, doi. 10.1002/ajmg.a.62262
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- Publication type:
- Article
Pharmacogenetics of Long-Term Responses to Antiretroviral Regimens Containing Efavirenz and/or Nelfinavir: An Adult AIDS Clinical Trials Group Study.
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- Journal of Infectious Diseases, 2005, v. 192, n. 11, p. 1931, doi. 10.1086/497610
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- Publication type:
- Article
The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
- Published in:
- Nature Genetics, 2002, v. 32, n. 3, p. 384, doi. 10.1038/ng1002
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- Publication type:
- Article
RNA-based translation activators for targeted gene upregulation.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-42252-z
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- Publication type:
- Article
Genome-Wide Identification of Expression Quantitative Trait Loci (eQTLs) in Human Heart.
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- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0097380
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- Publication type:
- Article
Multiscale Complexity Analysis of the Cardiac Control Identifies Asymptomatic and Symptomatic Patients in Long QT Syndrome Type 1.
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- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093808
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- Publication type:
- Article
A Data Similarity-Based Strategy for Meta-analysis of Transcriptional Profiles in Cancer.
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- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054979
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- Article
Transcriptional Networks in Epithelial-Mesenchymal Transition.
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- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0025354
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- Publication type:
- Article
Modifier genes for sudden cardiac death.
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- European Heart Journal, 2018, v. 39, n. 44, p. 3925, doi. 10.1093/eurheartj/ehy502
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- Publication type:
- Article
Polymorphisms in Beta-Adrenergic Receptor Genes in the Acquired Long QT Syndrome.
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- Journal of Cardiovascular Electrophysiology, 2002, v. 13, n. 3, p. 252, doi. 10.1046/j.1540-8167.2002.00252.x
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- Publication type:
- Article
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
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- Frontiers in Pharmacology, 2020, v. 11, p. 1, doi. 10.3389/fphar.2020.00550
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- Publication type:
- Article
Elucidating arrhythmogenicmechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes.
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- Cardiovascular Research, 2017, v. 113, n. 5, p. 531, doi. 10.1093/cvr/cvx006
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- Publication type:
- Article
SCN10A/Nav1.8 modulation of peak and late sodium currents in patients with early onset atrial fibrillation.
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- Cardiovascular Research, 2014, v. 104, n. 2, p. 355, doi. 10.1093/cvr/cvu170
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- Publication type:
- Article
Impaired Inactivation Gate Stabilization Predicts Increased Persistent Current for an Epilepsy-Associated SCN1A Mutation.
- Published in:
- Journal of Neuroscience, 2006, v. 26, n. 43, p. 10958, doi. 10.1523/JNEUROSCI.3378-06.2006
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- Publication type:
- Article
Predicting the functional impact of KCNQ1 variants with artificial neural networks.
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- PLoS Computational Biology, 2022, v. 18, n. 4, p. 1, doi. 10.1371/journal.pcbi.1010038
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- Publication type:
- Article
Current Review Inherited Channelopathies Associated with Epilepsy.
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- Epilepsy Currents, 2004, v. 4, n. 2, p. 65, doi. 10.1111/j.1535-7597.2004.42010.x
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- Publication type:
- Article
Functional BSND Variants in Essential Hypertension
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- American Journal of Hypertension, 2007, v. 20, n. 11, p. 1176, doi. 10.1016/j.amjhyper.2007.07.003
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- Publication type:
- Article
Recent Advances in Understanding the Molecular Mechanisms of the Long QT Syndrome.
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- Journal of Cardiovascular Electrophysiology, 1995, v. 6, n. 11, p. 1023, doi. 10.1111/j.1540-8167.1995.tb00379.x
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- Publication type:
- Article
Change of chloride ion channel conductance is an early event of slow‐to‐fast fibre type transition during unloading‐induced muscle disuse.
- Published in:
- Brain: A Journal of Neurology, 2002, v. 125, n. 7, p. 1510, doi. 10.1093/brain/awf162
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- Publication type:
- Article
Mutant channels contribute <50% to Na+ current in paramyotonia congenita muscle.
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- Brain: A Journal of Neurology, 1999, v. 122, n. 6, p. 1085, doi. 10.1093/brain/122.6.1085
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- Publication type:
- Article
Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death.
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- Forensic Science, Medicine & Pathology, 2018, v. 14, n. 3, p. 367, doi. 10.1007/s12024-018-9989-3
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- Publication type:
- Article
Prophecy or empiricism? Clinical value of predicting versus determining genetic variant functions.
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- Epilepsia (Series 4), 2023, v. 64, n. 11, p. 2909, doi. 10.1111/epi.17743
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- Publication type:
- Article
Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.
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- Epilepsia (Series 4), 2022, v. 63, n. 10, p. 2461, doi. 10.1111/epi.17332
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- Publication type:
- Article
The novel sodium channel modulator GS‐458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 6, p. 1166, doi. 10.1111/epi.14196
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- Publication type:
- Article
<italic>SCN1A</italic> variants associated with sudden infant death syndrome.
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- Epilepsia (Series 4), 2018, v. 59, n. 4, p. e56, doi. 10.1111/epi.14055
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- Publication type:
- Article