Published in Front Pharmacol on May 10, 2016
Pharmacovigilance database search discloses ClC-K channels as a novel target of the AT1 receptor blockers valsartan and olmesartan. Br J Pharmacol (2017) 0.85
Increased sodium channel use-dependent inhibition by a new potent analogue of tocainide greatly enhances in vivo antimyotonic activity. Neuropharmacology (2016) 0.83
Clinical and Genetic Spectrum of Bartter Syndrome Type 3. J Am Soc Nephrol (2017) 0.78
A new electro-optical approach for conductance measurement: an assay for the study of drugs acting on ligand-gated ion channels. Sci Rep (2017) 0.75
Commentary: A BK (Slo1) channel journey from molecule to physiology. Front Pharmacol (2017) 0.75
Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study. Front Pharmacol (2017) 0.75
Mutagenesis of the NaChBac sodium channel discloses a functional role for a conserved S6 asparagine. Eur Biophys J (2017) 0.75
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell (2004) 7.45
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet (1996) 7.35
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature (1998) 7.26
An SCN9A channelopathy causes congenital inability to experience pain. Nature (2006) 7.01
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation (2002) 5.94
Pharmacotherapy for neuropathic pain in adults: a systematic review and meta-analysis. Lancet Neurol (2015) 5.57
Inwardly rectifying potassium channels: their structure, function, and physiological roles. Physiol Rev (2010) 5.31
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med (2009) 4.96
Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell (2001) 4.36
SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. Neuron (2006) 3.96
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet (1996) 3.71
Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature (2001) 3.69
Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation (2003) 3.68
Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5. Nature (2005) 3.58
Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy. Ann Neurol (2011) 3.53
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet (1997) 3.51
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J Med Genet (2004) 3.45
Gating pore current in an inherited ion channelopathy. Nature (2007) 3.41
Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia. Nat Neurosci (2006) 3.36
A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome. Neuron (2010) 3.31
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet (2005) 3.27
Chloride channels as drug targets. Nat Rev Drug Discov (2008) 3.22
Deletion of the K(V)1.1 potassium channel causes epilepsy in mice. Neuron (1998) 3.18
Structure of a eukaryotic CLC transporter defines an intermediate state in the transport cycle. Science (2010) 3.00
Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol (1994) 2.82
Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann Neurol (2003) 2.79
ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature (2000) 2.79
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet (2015) 2.61
De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. Neurology (2009) 2.53
Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy. Brain (2014) 2.52
A comprehensive guide to the ROMK potassium channel: form and function in health and disease. Am J Physiol Renal Physiol (2009) 2.51
Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. Cell (2010) 2.42
Ranolazine shortens repolarization in patients with sustained inward sodium current due to type-3 long-QT syndrome. J Cardiovasc Electrophysiol (2008) 2.39
Voltage-gated sodium channels at 60: structure, function and pathophysiology. J Physiol (2012) 2.29
Paroxysmal extreme pain disorder (previously familial rectal pain syndrome). Neurology (2007) 2.22
Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial. Lancet Neurol (2015) 2.22
Long-term treatment of osteopetrosis with recombinant human interferon gamma. N Engl J Med (1995) 2.15
The phenotypic spectrum of SCN8A encephalopathy. Neurology (2015) 2.12
A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore. J Gen Physiol (2007) 2.10
High citrate diet delays progression of renal insufficiency in the ClC-5 knockout mouse model of Dent's disease. Kidney Int (2005) 2.02
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nat Genet (2015) 1.98
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Europace (2013) 1.97
Enhanced excitatory transmission at cortical synapses as the basis for facilitated spreading depression in Ca(v)2.1 knockin migraine mice. Neuron (2009) 1.97
Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. EMBO J (2005) 1.96
Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain (2007) 1.91
Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. Neurology (2007) 1.90
Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. Hum Mol Genet (2000) 1.87
Short QT syndrome: pharmacological treatment. J Am Coll Cardiol (2004) 1.87
Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain (2001) 1.82
Gating properties of SCN5A mutations and the response to mexiletine in long-QT syndrome type 3 patients. Circulation (2007) 1.82
Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use. Lancet Neurol (2014) 1.79
Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann Neurol (2012) 1.76
Pathophysiology of migraine. Annu Rev Physiol (2012) 1.73
ROMK inwardly rectifying ATP-sensitive K+ channel. II. Cloning and distribution of alternative forms. Am J Physiol (1995) 1.72
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann Neurol (2012) 1.70
Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol (2013) 1.70
Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons. Nat Neurosci (2013) 1.68
Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet J Rare Dis (2011) 1.63
Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis. Science (2010) 1.62
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. Neurology (2013) 1.61
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. Dev Med Child Neurol (2013) 1.61
A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat Genet (2013) 1.61
The therapeutic mode of action of 4-aminopyridine in cerebellar ataxia. J Neurosci (2010) 1.60
CaV2.1 channelopathies. Pflugers Arch (2010) 1.58
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurol (2013) 1.58
The role of the KATP channel in glucose homeostasis in health and disease: more than meets the islet. J Physiol (2010) 1.55
Gain-of-function Nav1.8 mutations in painful neuropathy. Proc Natl Acad Sci U S A (2012) 1.50
Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy: initial monotherapy outcomes at 12 months. Epilepsia (2012) 1.49
Acetazolamide acts directly on the human skeletal muscle chloride channel. Muscle Nerve (2006) 1.48
Functional properties and differential neuromodulation of Na(v)1.6 channels. Mol Cell Neurosci (2008) 1.47
Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents. J Clin Invest (2009) 1.46
ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity. EMBO J (2011) 1.43
Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant. J Neurosci (2007) 1.43
Enhanced dystrophic progression in mdx mice by exercise and beneficial effects of taurine and insulin-like growth factor-1. J Pharmacol Exp Ther (2003) 1.41
Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. JAMA (2012) 1.40
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol (2004) 1.40
The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential. Pharmacol Rev (2015) 1.38
Leukoencephalopathy upon disruption of the chloride channel ClC-2. J Neurosci (2007) 1.38
Targeting the inward-rectifier potassium channel ROMK in cardiovascular disease. Curr Opin Pharmacol (2013) 1.38
A Nav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity. J Physiol (2007) 1.35
Driving with no brakes: molecular pathophysiology of Kv7 potassium channels. Physiology (Bethesda) (2011) 1.34
The puzzle of TRPV4 channelopathies. EMBO Rep (2013) 1.33
A mouse model of episodic ataxia type-1. Nat Neurosci (2003) 1.32
A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation. Neurobiol Dis (2009) 1.32
Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. Ann Neurol (2001) 1.31
Voltage sensor interaction site for selective small molecule inhibitors of voltage-gated sodium channels. Proc Natl Acad Sci U S A (2013) 1.29
Pharmaco-topology of sulfonylurea receptors. Separate domains of the regulatory subunits of K(ATP) channel isoforms are required for selective interaction with K(+) channel openers. J Biol Chem (2000) 1.29
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology (2010) 1.29
Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders. Hum Mol Genet (1997) 1.27
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. Nephrol Dial Transplant (2008) 1.27
KCa channels as therapeutic targets in episodic ataxia type-2. J Neurosci (2010) 1.27
Mouse model of Timothy syndrome recapitulates triad of autistic traits. Proc Natl Acad Sci U S A (2011) 1.26
Targeting the voltage sensor of Kv7.2 voltage-gated K+ channels with a new gating-modifier. Proc Natl Acad Sci U S A (2010) 1.26
Transient receptor potential (TRP) channels: a clinical perspective. Br J Pharmacol (2014) 1.25
Responsiveness of hypercalciuria to thiazide in Dent's disease. J Am Soc Nephrol (2002) 1.25
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. Am J Hum Genet (2011) 1.24
Pharmacological characterization of chloride channels belonging to the ClC family by the use of chiral clofibric acid derivatives. Mol Pharmacol (2000) 1.24
Voltage-gated potassium channels and the diversity of electrical signalling. J Physiol (2012) 1.22
Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations. J Gen Physiol (2010) 1.20
A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. Ann Neurol (2009) 1.18