Published in Hum Mutat on October 01, 2011
Trafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segment. Epilepsia (2012) 0.96
Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations. PLoS One (2016) 0.81
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy. Neurosci Bull (2017) 0.76
Inside job: ligand-receptor pharmacology beneath the plasma membrane. Acta Pharmacol Sin (2013) 0.76
Visualization of protein interactions in living plant cells using bimolecular fluorescence complementation. Plant J (2004) 8.28
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study. Lancet Neurol (2013) 3.06
Retracted Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet (2003) 2.70
Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia (2012) 2.45
Antiepileptic drug therapy: does mechanism of action matter? Epilepsy Behav (2011) 2.20
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain (2013) 1.95
The new anticonvulsant retigabine favors voltage-dependent opening of the Kv7.2 (KCNQ2) channel by binding to its activation gate. Mol Pharmacol (2005) 1.95
Calcium sensors and their interacting protein kinases: genomics of the Arabidopsis and rice CBL-CIPK signaling networks. Plant Physiol (2004) 1.94
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol (2009) 1.94
Efficient generation of neural stem cell-like cells from adult human bone marrow stromal cells. J Cell Sci (2004) 1.79
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch Neurol (2002) 1.77
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest (2008) 1.60
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet (2013) 1.59
Expression pattern and functional characteristics of two novel splice variants of the two-pore-domain potassium channel TREK-2. J Physiol (2002) 1.56
A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Ann Neurol (2006) 1.55
Genetic testing in the epilepsies--report of the ILAE Genetics Commission. Epilepsia (2010) 1.51
The calcium sensor CBL1 integrates plant responses to abiotic stresses. Plant J (2003) 1.48
LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. Ann Neurol (2002) 1.48
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum Mol Genet (2012) 1.48
Nervous system KV7 disorders: breakdown of a subthreshold brake. J Physiol (2008) 1.47
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain (2008) 1.41
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. Ann Neurol (2014) 1.40
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol (2004) 1.40
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet (2013) 1.40
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet (2011) 1.39
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. Epilepsy Res (2003) 1.26
CLCN2 variants in idiopathic generalized epilepsy. Nat Genet (2009) 1.26
Chromanol 293B binding in KCNQ1 (Kv7.1) channels involves electrostatic interactions with a potassium ion in the selectivity filter. Mol Pharmacol (2007) 1.24
Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II. Brain (2002) 1.23
Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus. J Clin Invest (2010) 1.21
DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol (2014) 1.21
KV7 channelopathies. Pflugers Arch (2010) 1.20
Skeletal muscle channelopathies. J Neurol (2002) 1.20
Genetic mechanisms in idiopathic epilepsies. Dev Med Child Neurol (2008) 1.19
Epileptic nystagmus: two case reports, clinical and pathophysiological review of the literature. J Neurol (2006) 1.18
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. Hum Mutat (2009) 1.16
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain (2010) 1.16
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. Mov Disord (2009) 1.14
Differential roles of S6 domain hinges in the gating of KCNQ potassium channels. Biophys J (2005) 1.13
Eryptosis, a window to systemic disease. Cell Physiol Biochem (2008) 1.10
Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24. Epilepsia (2002) 1.09
Exploration of the genetic architecture of idiopathic generalized epilepsies. Epilepsia (2006) 1.07
Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore. Mol Pharmacol (2008) 1.07
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy. Epilepsia (2013) 1.07
The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins. FEBS Lett (2002) 1.06
C-terminal interaction of KCNQ2 and KCNQ3 K+ channels. J Physiol (2003) 1.05
Immunohistochemical analysis of KCNQ3 potassium channels in mouse brain. Neurosci Lett (2006) 1.03
Evaluation of cognition, structural, and functional MRI in juvenile myoclonic epilepsy. Epilepsia (2009) 1.02
Mesodermal cell types induce neurogenesis from adult human hippocampal progenitor cells. J Neurochem (2006) 1.01
PRRT2 mutations are the major cause of benign familial infantile seizures. Hum Mutat (2012) 1.01
Consensus on diagnosis and management of JME: From founder's observations to current trends. Epilepsy Behav (2013) 1.01
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia (2013) 0.99
Immunohistochemical analysis of KCNQ2 potassium channels in adult and developing mouse brain. Brain Res (2006) 0.98
PRRT2-related disorders: further PKD and ICCA cases and review of the literature. J Neurol (2013) 0.97
Transcription profiling of adult and fetal human neuroprogenitors identifies divergent paths to maintain the neuroprogenitor cell state. Stem Cells (2007) 0.97
A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1. Epilepsia (2008) 0.96
Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional magnetic resonance imaging study. Neurosci Lett (2003) 0.95
Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy. Eur J Neurosci (2005) 0.95
RBFOX1 and RBFOX3 mutations in rolandic epilepsy. PLoS One (2013) 0.95
TGFbeta-1 dependent fast stimulation of ATM and p53 phosphorylation following exposure to ionizing radiation does not involve TGFbeta-receptor I signalling. Radiother Oncol (2007) 0.95
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. Epilepsia (2012) 0.94
The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. Neurobiol Dis (2005) 0.94
Chorein-sensitive polymerization of cortical actin and suicidal cell death in chorea-acanthocytosis. FASEB J (2012) 0.93
Genetics of paroxysmal dyskinesias. Curr Neurol Neurosci Rep (2009) 0.93
Cooperative effect of S4-S5 loops in domains D3 and D4 on fast inactivation of the Na+ channel. J Physiol (2004) 0.93
Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy. Neurobiol Dis (2006) 0.91
Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families. Epilepsia (2004) 0.91
A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy. Epilepsy Res (2005) 0.91
Coupling BCI and cortical stimulation for brain-state-dependent stimulation: methods for spectral estimation in the presence of stimulation after-effects. Front Neural Circuits (2012) 0.90
Speech-induced aphasic seizures in epilepsy caused by LGI1 mutation. Epilepsia (2005) 0.88
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. Arch Neurol (2003) 0.87
Using gene-history and expression analyses to assess the involvement of LGI genes in human disorders. Mol Biol Evol (2005) 0.87
Neonatal seizures with tonic clonic sequences and poor developmental outcome. Epilepsy Res (2005) 0.87
Site-directed mutagenesis of the ATM promoter: consequences for response to proliferation and ionizing radiation. Genes Chromosomes Cancer (2003) 0.87
Retigabine/Ezogabine, a KCNQ/K(V)7 channel opener: pharmacological and clinical data. Expert Opin Pharmacother (2012) 0.86
A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy. Epilepsia (2003) 0.86
Potassium channels: a review of broadening therapeutic possibilities for neurological diseases. J Neurol (2012) 0.85
Impact of Genetic Polymorphisms of ABCB1 (MDR1, P-Glycoprotein) on Drug Disposition and Potential Clinical Implications: Update of the Literature. Clin Pharmacokinet (2015) 0.85
Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene. FEBS Lett (2009) 0.85
FIRES and NORSE are distinct entities. Epilepsia (2012) 0.85
Hereditary channelopathies in neurology. Adv Exp Med Biol (2010) 0.85
The LaLiMo Trial: lamotrigine compared with levetiracetam in the initial 26 weeks of monotherapy for focal and generalised epilepsy--an open-label, prospective, randomised controlled multicenter study. J Neurol Neurosurg Psychiatry (2012) 0.85
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy. Epilepsia (2010) 0.85
Tandem pore domain K(+)-channel TASK-3 (KCNK9) and idiopathic absence epilepsies. Am J Med Genet (2002) 0.84
Idiopathic-generalized epilepsy shows profound white matter diffusion-tensor imaging alterations. Hum Brain Mapp (2013) 0.84
Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. Epilepsia (2014) 0.82
Antibody-mediated status epilepticus: a retrospective multicenter survey. Eur Neurol (2012) 0.82
A conserved threonine in the S1-S2 loop of KV7.2 and K V7.3 channels regulates voltage-dependent activation. Pflugers Arch (2012) 0.82
Painful seizures associated with a lesion in the midcingulate cortex. J Neurol (2009) 0.81
Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis. Epilepsy Res (2010) 0.81
An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current. Epilepsia (2013) 0.81
Congenital myasthenia in Brahman calves caused by homozygosity for a CHRNE truncating mutation. Neurogenetics (2002) 0.81
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy. Seizure (2013) 0.81
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
Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy. Neurogenetics (2003) 0.80
Asymmetry of long-latency auditory evoked potentials in LGI1-related autosomal dominant lateral temporal lobe epilepsy. Epilepsia (2005) 0.80