Published in Neurology on September 13, 2007
A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. Nat Med (2010) 2.00
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nat Genet (2015) 1.98
Nervous system KV7 disorders: breakdown of a subthreshold brake. J Physiol (2008) 1.47
KV7 channelopathies. Pflugers Arch (2010) 1.20
Made for "anchorin": Kv7.2/7.3 (KCNQ2/KCNQ3) channels and the modulation of neuronal excitability in vertebrate axons. Semin Cell Dev Biol (2010) 1.08
Voltage-gated potassium channels at the crossroads of neuronal function, ischemic tolerance, and neurodegeneration. Transl Stroke Res (2013) 1.06
Pathophysiological role of omega pore current in channelopathies. Front Pharmacol (2012) 0.97
The C-terminal domain of ßIV-spectrin is crucial for KCNQ2 aggregation and excitability at nodes of Ranvier. J Physiol (2010) 0.95
Gating consequences of charge neutralization of arginine residues in the S4 segment of K(v)7.2, an epilepsy-linked K+ channel subunit. Biophys J (2008) 0.94
Enhancing m currents: a way out for neuropathic pain? Front Mol Neurosci (2009) 0.93
Biophysics, pathophysiology, and pharmacology of ion channel gating pores. Front Pharmacol (2014) 0.87
The Voltage-Sensing Domain of K(v)7.2 Channels as a Molecular Target for Epilepsy-Causing Mutations and Anticonvulsants. Front Pharmacol (2011) 0.87
Treatment of neuromuscular channelopathies: current concepts and future prospects. Neurotherapeutics (2008) 0.86
Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery. Front Pharmacol (2016) 0.86
Potassium channels: a review of broadening therapeutic possibilities for neurological diseases. J Neurol (2012) 0.85
Genetic neurological channelopathies: molecular genetics and clinical phenotypes. J Neurol Neurosurg Psychiatry (2015) 0.85
Gating currents from Kv7 channels carrying neuronal hyperexcitability mutations in the voltage-sensing domain. Biophys J (2012) 0.85
Noise-induced plasticity of KCNQ2/3 and HCN channels underlies vulnerability and resilience to tinnitus. Elife (2015) 0.85
Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature. Neurobiol Dis (2012) 0.85
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs. Eur J Hum Genet (2016) 0.84
Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy. J Physiol (2007) 0.81
Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations. PLoS One (2016) 0.81
Profile of ezogabine (retigabine) and its potential as an adjunctive treatment for patients with partial-onset seizures. Neuropsychiatr Dis Treat (2011) 0.80
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy. BMC Med Genet (2015) 0.79
Retigabine holds KV7 channels open and stabilizes the resting potential. J Gen Physiol (2016) 0.79
Modulation of K(v)7 potassium channels by a novel opener pyrazolo[1,5-a]pyrimidin-7(4H)-one compound QO-58. Br J Pharmacol (2013) 0.77
Activation of axonal Kv7 channels in human peripheral nerve by flupirtine but not placebo - therapeutic potential for peripheral neuropathies: results of a randomised controlled trial. J Transl Med (2013) 0.76
TRPM3 in temperature sensing and beyond. Temperature (Austin) (2015) 0.76
Upsetting the balance among membrane channels can produce hyperexcitability or inexcitability. Neurology (2007) 0.75
Purine receptor antagonist modulates serology and affective behaviors in lupus-prone mice: evidence of autoimmune-induced pain? Brain Behav Immun (2008) 0.75
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. Epilepsia (2017) 0.75
Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures. Mol Syndromol (2016) 0.75
Excitability changes induced in the human motor cortex by weak transcranial direct current stimulation. J Physiol (2000) 12.01
Sustained excitability elevations induced by transcranial DC motor cortex stimulation in humans. Neurology (2001) 7.03
The skeletal muscle chloride channel in dominant and recessive human myotonia. Science (1992) 4.28
Pharmacological modulation of cortical excitability shifts induced by transcranial direct current stimulation in humans. J Physiol (2003) 4.08
Effects of antiepileptic drugs on motor cortex excitability in humans: a transcranial magnetic stimulation study. Ann Neurol (1996) 4.02
Shaping the effects of transcranial direct current stimulation of the human motor cortex. J Neurophysiol (2007) 3.15
Dendrimers: relationship between structure and biocompatibility in vitro, and preliminary studies on the biodistribution of 125I-labelled polyamidoamine dendrimers in vivo. J Control Release (2000) 3.07
Epidemiology of central nervous system tumors in childhood and adolescence based on the new WHO classification. Childs Nerv Syst (2001) 2.94
The effect of lorazepam on the motor cortical excitability in man. Exp Brain Res (1996) 2.92
Voltage-gated ion channels and hereditary disease. Physiol Rev (1999) 2.76
A diagnostic score for the irritable bowel syndrome. Its value in the exclusion of organic disease. Gastroenterology (1984) 2.70
Infinite-layer iron oxide with a square-planar coordination. Nature (2007) 2.41
Partially non-linear stimulation intensity-dependent effects of direct current stimulation on motor cortex excitability in humans. J Physiol (2013) 2.39
Membrane changes in cells from myotonia patients. Physiol Rev (1985) 2.38
A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet (1994) 2.22
Efficacy and safety of adjunctive ezogabine (retigabine) in refractory partial epilepsy. Neurology (2010) 2.16
Magnetic stimulation: motor evoked potentials. The International Federation of Clinical Neurophysiology. Electroencephalogr Clin Neurophysiol Suppl (1999) 2.10
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias. Neurology (2011) 2.09
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc Natl Acad Sci U S A (2000) 1.97
Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH. Muscle Nerve (1987) 1.94
Demonstration of facilitatory I wave interaction in the human motor cortex by paired transcranial magnetic stimulation. J Physiol (1998) 1.89
Genotype-phenotype correlations in human skeletal muscle sodium channel diseases. Arch Neurol (1993) 1.88
Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2. Neurology (2010) 1.84
Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain (2001) 1.82
Rosetted glioneuronal tumor: a case with proliferating neuronal nodules. Acta Neuropathol (2001) 1.82
Malignant hyperthermia mutation Arg615Cys in the porcine ryanodine receptor alters voltage dependence of Ca2+ release. J Physiol (2000) 1.76
Effects of transcranial direct current stimulation over the human motor cortex on corticospinal and transcallosal excitability. Exp Brain Res (2004) 1.75
Distribution and characterization of microglia/macrophages in human brain tumors. Acta Neuropathol (1996) 1.73
Selective increase of iron in substantia nigra zona compacta of parkinsonian brains. J Neurochem (1991) 1.70
Impaired motor cortex inhibition in patients with amyotrophic lateral sclerosis. Evidence from paired transcranial magnetic stimulation. Neurology (1997) 1.67
Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nat Genet (1994) 1.67
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. Neurology (2012) 1.67
External modulation of visual perception in humans. Neuroreport (2001) 1.63
Surgical treatment of craniopharyngiomas: experience with 168 patients. J Neurosurg (1999) 1.60
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology (2011) 1.58
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nat Genet (2000) 1.58
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature (1990) 1.57
Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita. Acta Neurol Scand (2009) 1.57
In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group. Acta Anaesthesiol Scand (1997) 1.57
Myotonia fluctuans. Arch Neurol (1990) 1.56
K(+)-aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation. J Physiol (1994) 1.54
Genetics and pathogenesis of malignant hyperthermia. Muscle Nerve (2000) 1.50
The Wada test in Austrian, Dutch, German, and Swiss epilepsy centers from 2000 to 2005: a review of 1421 procedures. Epilepsy Behav (2008) 1.50
Pleomorphic xanthoastrocytoma: report of six cases with special consideration of diagnostic and therapeutic pitfalls. Surg Neurol (1997) 1.44
Hypokalemic periodic paralysis: in vitro investigation of muscle fiber membrane parameters. Muscle Nerve (1984) 1.44
Applications of magnetic cortical stimulation. The International Federation of Clinical Neurophysiology. Electroencephalogr Clin Neurophysiol Suppl (1999) 1.44
Regional modulation of BOLD MRI responses to human sensorimotor activation by transcranial direct current stimulation. Magn Reson Med (2001) 1.42
Decreased motor inhibition in Tourette's disorder: evidence from transcranial magnetic stimulation. Am J Psychiatry (1997) 1.41
Pediatric high-grade astrocytomas show chromosomal imbalances distinct from adult cases. Am J Pathol (2001) 1.41
Two cases of adynamia episodica hereditaria: in vitro investigation of muscle cell membrane and contraction parameters. Muscle Nerve (1983) 1.39
[Diabetes screening in pregnant patients with different risk factors. Benefits, therapeutic success, consequences]. Z Geburtshilfe Neonatol (1996) 1.39
Time course of the induction of homeostatic plasticity generated by repeated transcranial direct current stimulation of the human motor cortex. J Neurophysiol (2010) 1.39
Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. J Physiol (1995) 1.36
Myotonia fluctuans. A third type of muscle sodium channel disease. Arch Neurol (1994) 1.33
Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet (1994) 1.32
Ion channels and epilepsy. Am J Med Genet (2001) 1.32
Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology (1994) 1.31
Hashimoto encephalopathy: a brainstem vasculitis? Neurology (2000) 1.31
4-Chloro-m-cresol, a potent and specific activator of the skeletal muscle ryanodine receptor. Biochim Biophys Acta (1996) 1.29
Regulation of the purified Ca2+ release channel/ryanodine receptor complex of skeletal muscle sarcoplasmic reticulum by luminal calcium. Pflugers Arch (1996) 1.29
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology (2010) 1.29
Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle. Ann Neurol (1996) 1.28
CD24 promotes invasion of glioma cells in vivo. J Neuropathol Exp Neurol (1999) 1.27
Brain iron and ferritin in Parkinson's and Alzheimer's diseases. J Neural Transm Park Dis Dement Sect (1990) 1.27
A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum Mol Genet (1993) 1.26
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet (2001) 1.25
Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis. J Clin Invest (1999) 1.25
Role in fast inactivation of the IV/S4-S5 loop of the human muscle Na+ channel probed by cysteine mutagenesis. J Physiol (1997) 1.22
Theta burst stimulation induces after-effects on contralateral primary motor cortex excitability in humans. J Physiol (2008) 1.20
Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man. Eur J Neurosci (2001) 1.19
Lasting influence of repetitive transcranial magnetic stimulation on intracortical excitability in human subjects. Neurosci Lett (2000) 1.19
Tumors of the choroid plexus. Microsc Res Tech (2001) 1.19
Pharmacological control of facilitatory I-wave interaction in the human motor cortex. A paired transcranial magnetic stimulation study. Electroencephalogr Clin Neurophysiol (1998) 1.18
Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants. Neurology (2004) 1.17
Diminution of training-induced transient motor cortex plasticity by weak transcranial direct current stimulation in the human. Neurosci Lett (2000) 1.17
Functional MRI of cortical activations induced by transcranial magnetic stimulation (TMS). Neuroreport (2001) 1.17
A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions. Ann Neurol (1999) 1.17
Inhibition of human motor cortex by ethanol. A transcranial magnetic stimulation study. Brain (1995) 1.16
Active fascial contractility: Fascia may be able to contract in a smooth muscle-like manner and thereby influence musculoskeletal dynamics. Med Hypotheses (2005) 1.16
Complete suppression of voluntary motor drive during the silent period after transcranial magnetic stimulation. Exp Brain Res (1999) 1.15
BRAF-KIAA1549 fusion transcripts are less frequent in pilocytic astrocytomas diagnosed in adults. Neuropathol Appl Neurobiol (2011) 1.15
Overexcited or inactive: ion channels in muscle disease. Cell (1995) 1.15
Drug-induced myotonia in human intercostal muscle. Muscle Nerve (1988) 1.13
[Ophthalmic agents during pregnancy and breastfeeding]. Ophthalmologe (2012) 1.12
The resting membrane parameters of human intercostal muscle at low, normal, and high extracellular potassium. Muscle Nerve (1984) 1.10
Stem cell protein BMI-1 is an independent marker for poor prognosis in oligodendroglial tumours. Neuropathol Appl Neurobiol (2008) 1.10
Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families. Am J Hum Genet (1995) 1.10
Human post-mortem striatal alpha4beta2 nicotinic acetylcholine receptor density in schizophrenia and Parkinson's syndrome. Neurosci Lett (2000) 1.10
Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness. Neurology (2006) 1.10