Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.

Ethical, legal, and social dimensions of epilepsy genetics. Epilepsia (2006) 5.95

CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations. J Clin Invest (2004) 5.36

Chloride channels as drug targets. Nat Rev Drug Discov (2008) 3.22

Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am J Hum Genet (2008) 1.64

Analysis of genetically complex epilepsies. Epilepsia (2005) 1.58

Bench-to-bedside review: Chloride in critical illness. Crit Care (2010) 1.53

Familial clustering of seizure types within the idiopathic generalized epilepsies. Neurology (2005) 1.51

A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. PLoS Genet (2010) 1.48

A sensor for intracellular ionic strength. Proc Natl Acad Sci U S A (2006) 1.46

Cysteine accessibility in ClC-0 supports conservation of the ClC intracellular vestibule. J Gen Physiol (2005) 1.45

Quantitative analysis of the voltage-dependent gating of mouse parotid ClC-2 chloride channel. J Gen Physiol (2005) 1.42

A conserved pore-lining glutamate as a voltage- and chloride-dependent gate in the ClC-2 chloride channel. J Physiol (2003) 1.32

The voltage-dependent ClC-2 chloride channel has a dual gating mechanism. J Physiol (2004) 1.29

CLCN2 variants in idiopathic generalized epilepsy. Nat Genet (2009) 1.26

Carboxy-terminal truncations modify the outer pore vestibule of muscle chloride channels. Biophys J (2005) 1.19

Gating of human ClC-2 chloride channels and regulation by carboxy-terminal domains. J Physiol (2008) 1.19

Genome wide expression analysis of CBS domain containing proteins in Arabidopsis thaliana (L.) Heynh and Oryza sativa L. reveals their developmental and stress regulation. BMC Genomics (2009) 1.14

Lubiprostone activates non-CFTR-dependent respiratory epithelial chloride secretion in cystic fibrosis mice. Am J Physiol Lung Cell Mol Physiol (2008) 1.14

GCK-3, a newly identified Ste20 kinase, binds to and regulates the activity of a cell cycle-dependent ClC anion channel. J Gen Physiol (2005) 1.14

Sexually dimorphic expression of KCC2 and GABA function. Epilepsy Res (2008) 1.10

Long-term prognosis for childhood and juvenile absence epilepsy. J Neurol (2004) 1.10

EFHC1 interacts with microtubules to regulate cell division and cortical development. Nat Neurosci (2009) 1.09

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility. Hum Mol Genet (2009) 1.07

Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. Am J Hum Genet (2004) 1.05

The mechanism of fast-gate opening in ClC-0. J Gen Physiol (2007) 1.03

Removal of gating in voltage-dependent ClC-2 chloride channel by point mutations affecting the pore and C-terminus CBS-2 domain. J Physiol (2006) 1.02

Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview. J Neurol (2004) 1.01

Mutations affecting GABAergic signaling in seizures and epilepsy. Pflugers Arch (2010) 0.99

Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain. Hum Genet (2009) 0.97

Inherited Channelopathies Associated with Epilepsy. Epilepsy Curr (2004) 0.94

Clcn2 encodes the hyperpolarization-activated chloride channel in the ducts of mouse salivary glands. Am J Physiol Gastrointest Liver Physiol (2008) 0.94

Alternative splicing of N- and C-termini of a C. elegans ClC channel alters gating and sensitivity to external Cl- and H+. J Physiol (2003) 0.94

Use of chromosome substitution strains to identify seizure susceptibility loci in mice. Mamm Genome (2007) 0.92

Genetic influences on myoclonic and absence seizures. Neurology (2003) 0.90

GABA(A) receptors in normal development and seizures: friends or foes? Curr Neuropharmacol (2008) 0.90

A cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membrane. PLoS One (2008) 0.86

Linkage and association analysis of CACNG3 in childhood absence epilepsy. Eur J Hum Genet (2007) 0.86

Isolation and characterization of a high affinity peptide inhibitor of ClC-2 chloride channels. J Biol Chem (2009) 0.86

Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease. Genome Biol (2007) 0.86

Genetic complexity of absence seizures in substrains of C3H mice. Genes Brain Behav (2009) 0.85

Advances in genetics of juvenile myoclonic epilepsies. Epilepsy Curr (2007) 0.84

No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy. Nat Genet (2010) 0.84

Changes in GABAA receptors in status epilepticus. Epilepsia (2007) 0.84

Evaluation of the membrane-spanning domain of ClC-2. Biochem J (2006) 0.83

Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy. Epilepsy Res (2008) 0.83

Evaluating candidate genes in common epilepsies and the nature of evidence. Epilepsia (2007) 0.82

Clinical review of genetic epileptic encephalopathies. Eur J Med Genet (2012) 0.81

Inhibition of ClC-2 chloride channels by a peptide component or components of scorpion venom. J Membr Biol (2005) 0.81

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy. Epilepsia (2009) 0.81

A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33. Hum Genet (2008) 0.81

CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity. BMC Med Genet (2004) 0.81

What's new in: "genetics in childhood epilepsy". Eur J Pediatr (2008) 0.80

An Etiological Model for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome. Neurosci Med (2011) 0.80

Putative ClC-2 chloride channel mediates inward rectification in Drosophila retinal photoreceptors. J Membr Biol (2005) 0.79

MLC1 protein: a likely link between leukodystrophies and brain channelopathies. Front Cell Neurosci (2015) 0.79

Purification, crystallization and preliminary X-ray diffraction analysis of the CBS-domain pair from the Methanococcus jannaschii protein MJ0100. Acta Crystallogr Sect F Struct Biol Cryst Commun (2008) 0.79

Purification, crystallization and preliminary crystallographic analysis of protein MJ1225 from Methanocaldococcus jannaschii, a putative archaeal homologue of gamma-AMPK. Acta Crystallogr Sect F Struct Biol Cryst Commun (2009) 0.79

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome. Mol Syndromol (2016) 0.79

The functioning of mammalian ClC-2 chloride channel in Saccharomyces cerevisiae cells requires an increased level of Kha1p. Biochem J (2005) 0.79

An association analysis of reelin gene (RELN) polymorphisms with childhood epilepsy in eastern Indian population from West Bengal. Cell Mol Neurobiol (2010) 0.78

Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes. Neurogenetics (2006) 0.78

Role of intramolecular and intermolecular interactions in ClC channel and transporter function. Pflugers Arch (2005) 0.78

Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet (2009) 0.77

Transcriptome analysis of neonatal larvae after hyperthermia-induced seizures in the contractile silkworm, Bombyx mori. PLoS One (2014) 0.76

Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy. PLoS One (2015) 0.76

Chloride channelopathies of ClC-2. Int J Mol Sci (2013) 0.76

Understanding Genotypes and Phenotypes in Epileptic Encephalopathies. Mol Syndromol (2016) 0.75

Identification of a new JME gene implicates reduced apoptotic neuronal death as a mechanism of epileptogenesis. Epilepsy Curr (2005) 0.75

Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40

WGCNA: an R package for weighted correlation network analysis. BMC Bioinformatics (2008) 18.58

A general framework for weighted gene co-expression network analysis. Stat Appl Genet Mol Biol (2005) 17.23

Molecular determinants of the response of glioblastomas to EGFR kinase inhibitors. N Engl J Med (2005) 15.42

Variations in DNA elucidate molecular networks that cause disease. Nature (2008) 12.04

Principles of interleukin (IL)-6-type cytokine signalling and its regulation. Biochem J (2003) 10.77

Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet (2008) 10.52

Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature (2011) 10.16

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02

Integrated transcriptional profiling and linkage analysis for identification of genes underlying disease. Nat Genet (2005) 7.82

Gene expression profiling of gliomas strongly predicts survival. Cancer Res (2004) 7.79

Defining clusters from a hierarchical cluster tree: the Dynamic Tree Cut package for R. Bioinformatics (2007) 7.72

DNA methylation age of human tissues and cell types. Genome Biol (2013) 7.48

Role of the murine reprogramming factors in the induction of pluripotency. Cell (2009) 7.46

ILAE official report: a practical clinical definition of epilepsy. Epilepsia (2014) 7.12

Global histone modification patterns predict risk of prostate cancer recurrence. Nature (2005) 7.03

Functional organization of the transcriptome in human brain. Nat Neurosci (2008) 7.02

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21

Integrating genetic and network analysis to characterize genes related to mouse weight. PLoS Genet (2006) 5.82

Cell cycle-dependent dynamic localization of a bacterial response regulator with a novel di-guanylate cyclase output domain. Genes Dev (2004) 5.72

Conservation and evolution of gene coexpression networks in human and chimpanzee brains. Proc Natl Acad Sci U S A (2006) 5.69

Antitumor activity of rapamycin in a Phase I trial for patients with recurrent PTEN-deficient glioblastoma. PLoS Med (2008) 5.54

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet (2010) 5.48

Structural basis of activity and allosteric control of diguanylate cyclase. Proc Natl Acad Sci U S A (2004) 4.40

Eigengene networks for studying the relationships between co-expression modules. BMC Syst Biol (2007) 4.06

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet (2006) 4.01

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96

Gene connectivity, function, and sequence conservation: predictions from modular yeast co-expression networks. BMC Genomics (2006) 3.87

Gene network interconnectedness and the generalized topological overlap measure. BMC Bioinformatics (2007) 3.83

Identification of molecular subtypes of glioblastoma by gene expression profiling. Oncogene (2003) 3.83

Targeting phosphoinositide 3-kinase: moving towards therapy. Biochim Biophys Acta (2007) 3.69

Weighted gene coexpression network analysis strategies applied to mouse weight. Mamm Genome (2007) 3.59

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet (2009) 3.58

A genome-scale RNAi screen for Oct4 modulators defines a role of the Paf1 complex for embryonic stem cell identity. Cell Stem Cell (2009) 3.55

Role of endocytosis in cellular uptake of sex steroids. Cell (2005) 3.49

Epigenetic predictor of age. PLoS One (2011) 3.46

Seizure prediction: the long and winding road. Brain (2006) 3.40

Elucidating the role of gonadal hormones in sexually dimorphic gene coexpression networks. Endocrinology (2008) 3.38

Analysis of the phosphatidylinositol 3'-kinase signaling pathway in glioblastoma patients in vivo. Cancer Res (2003) 3.36

Understanding network concepts in modules. BMC Syst Biol (2007) 3.28

Carbonic anhydrase IX is an independent predictor of survival in advanced renal clear cell carcinoma: implications for prognosis and therapy. Clin Cancer Res (2003) 3.25

Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. Am J Hum Genet (2005) 3.24

Gene expression profiling identifies molecular subtypes of gliomas. Oncogene (2003) 3.13

Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study. Lancet Neurol (2013) 3.06

Genetic programs in human and mouse early embryos revealed by single-cell RNA sequencing. Nature (2013) 3.06

Aging effects on DNA methylation modules in human brain and blood tissue. Genome Biol (2012) 3.05

Identification of inflammatory gene modules based on variations of human endothelial cell responses to oxidized lipids. Proc Natl Acad Sci U S A (2006) 3.03

Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02

SNP and haplotype mapping for genetic analysis in the rat. Nat Genet (2008) 2.96

Cross-frequency coupling supports multi-item working memory in the human hippocampus. Proc Natl Acad Sci U S A (2010) 2.94

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet (2009) 2.93

Is my network module preserved and reproducible? PLoS Comput Biol (2011) 2.91

A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk. Nature (2010) 2.88

Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism. Cell (2013) 2.87

Divergence of human and mouse brain transcriptome highlights Alzheimer disease pathways. Proc Natl Acad Sci U S A (2010) 2.85

Global analysis of gene activity during Arabidopsis seed development and identification of seed-specific transcription factors. Proc Natl Acad Sci U S A (2010) 2.81

Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the European population. Genome Res (2003) 2.75

Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. Am J Hum Genet (2011) 2.71

Differential sensitivity of glioma- versus lung cancer-specific EGFR mutations to EGFR kinase inhibitors. Cancer Discov (2012) 2.61

Risks of less common cancers in proven mutation carriers with lynch syndrome. J Clin Oncol (2012) 2.59

Using genetic markers to orient the edges in quantitative trait networks: the NEO software. BMC Syst Biol (2008) 2.51

Confirmation of association of the GABRA2 gene with alcohol dependence by subtype-specific analysis. Psychiatr Genet (2006) 2.50

Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia (2012) 2.45

Second messenger-mediated spatiotemporal control of protein degradation regulates bacterial cell cycle progression. Genes Dev (2009) 2.44

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology (2009) 2.42

Engaging neuroscience to advance translational research in brain barrier biology. Nat Rev Neurosci (2011) 2.40

Phase/amplitude reset and theta-gamma interaction in the human medial temporal lobe during a continuous word recognition memory task. Hippocampus (2005) 2.37

Network neighborhood analysis with the multi-node topological overlap measure. Bioinformatics (2006) 2.35

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nat Genet (2010) 2.35

Kidney transplant rejection and tissue injury by gene profiling of biopsies and peripheral blood lymphocytes. Am J Transplant (2004) 2.35

Epilepsy: accuracy of patient seizure counts. Arch Neurol (2007) 2.33

Antiepileptic drugs interact with folate and vitamin B12 serum levels. Ann Neurol (2011) 2.31

Gene expression analysis of glioblastomas identifies the major molecular basis for the prognostic benefit of younger age. BMC Med Genomics (2008) 2.29

Global levels of histone modifications predict prognosis in different cancers. Am J Pathol (2009) 2.28

Diagnostic value of N-methyl-D-aspartate receptor antibodies in women with new-onset epilepsy. Arch Neurol (2009) 2.25

Transplanted mesenchymal stem cells accelerate glomerular healing in experimental glomerulonephritis. J Am Soc Nephrol (2006) 2.24

A systems genetics approach implicates USF1, FADS3, and other causal candidate genes for familial combined hyperlipidemia. PLoS Genet (2009) 2.24

EGFR signaling through an Akt-SREBP-1-dependent, rapamycin-resistant pathway sensitizes glioblastomas to antilipogenic therapy. Sci Signal (2009) 2.23

Antiepileptic drug therapy: does mechanism of action matter? Epilepsy Behav (2011) 2.20

Characterization of superoxide-producing sites in isolated brain mitochondria. J Biol Chem (2003) 2.20

Signed weighted gene co-expression network analysis of transcriptional regulation in murine embryonic stem cells. BMC Genomics (2009) 2.15

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat Genet (2012) 2.15

Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis. J Natl Cancer Inst (2013) 2.13

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet (2009) 2.12

Assessing seizure dynamics by analysing the correlation structure of multichannel intracranial EEG. Brain (2006) 2.10

Neurosphere formation is an independent predictor of clinical outcome in malignant glioma. Stem Cells (2009) 2.10

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat (2005) 2.09

Hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome. Dtsch Arztebl Int (2013) 2.09

Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet (2013) 2.09

Postictal generalized EEG suppression: an inconsistent finding in people with multiple seizures. Neurology (2013) 2.08

Connectivity-based segregation of the human striatum predicts personality characteristics. Nat Neurosci (2008) 2.05

Genome-wide association study reveals three susceptibility loci for common migraine in the general population. Nat Genet (2011) 1.98

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. Nat Med (2012) 1.97

Maternal embryonic leucine zipper kinase is a key regulator of the proliferation of malignant brain tumors, including brain tumor stem cells. J Neurosci Res (2008) 1.96

Strategies for aggregating gene expression data: the collapseRows R function. BMC Bioinformatics (2011) 1.96