Published in Mamm Genome on April 01, 2004
Sodium channel mutations in epilepsy and other neurological disorders. J Clin Invest (2005) 3.17
Molecular targets for antiepileptic drug development. Neurotherapeutics (2007) 1.78
Functional implications for Kir4.1 channels in glial biology: from K+ buffering to cell differentiation. J Neurochem (2008) 1.66
Dissection of a QTL hotspot on mouse distal chromosome 1 that modulates neurobehavioral phenotypes and gene expression. PLoS Genet (2008) 1.64
Genetics of complex neurological disease: challenges and opportunities for modeling epilepsy in mice and rats. Trends Genet (2009) 1.25
Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a. Mamm Genome (2005) 1.22
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10). J Biol Chem (2010) 1.17
A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice. Hum Mol Genet (2010) 1.11
Finding the molecular basis of complex genetic variation in humans and mice. Philos Trans R Soc Lond B Biol Sci (2006) 1.06
The relevance of individual genetic background and its role in animal models of epilepsy. Epilepsy Res (2011) 1.04
A comprehensive mouse IBD database for the efficient localization of quantitative trait loci. Mamm Genome (2006) 0.99
Regulation of magnesium balance: lessons learned from human genetic disease. Clin Kidney J (2012) 0.99
Potassium channel activity and glutamate uptake are impaired in astrocytes of seizure-susceptible DBA/2 mice. Epilepsia (2010) 0.96
Confirmation of an epilepsy modifier locus on mouse chromosome 11 and candidate gene analysis by RNA-Seq. Genes Brain Behav (2012) 0.96
Strain differences in seizure-induced cell death following pilocarpine-induced status epilepticus. Neurobiol Dis (2011) 0.94
K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy. Front Cell Neurosci (2013) 0.94
Chronic dysfunction of astrocytic inwardly rectifying K+ channels specific to the neocortical epileptic focus after fluid percussion injury in the rat. J Neurophysiol (2010) 0.94
Use of chromosome substitution strains to identify seizure susceptibility loci in mice. Mamm Genome (2007) 0.92
New Insights on Astrocyte Ion Channels: Critical for Homeostasis and Neuron-Glia Signaling. J Neurosci (2015) 0.89
Molecular genetic analysis of two loci (Ity2 and Ity3) involved in the host response to infection with Salmonella typhimurium using congenic mice and expression profiling. Genetics (2007) 0.89
Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland. Hum Mol Genet (2009) 0.88
DNA methylation functions as a critical regulator of Kir4.1 expression during CNS development. Glia (2014) 0.87
Epilepsy in kcnj10 morphant zebrafish assessed with a novel method for long-term EEG recordings. PLoS One (2013) 0.86
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. BMC Med Genet (2013) 0.85
Potassium Channels and Human Epileptic Phenotypes: An Updated Overview. Front Cell Neurosci (2016) 0.85
Dissociation of seizure traits in inbred strains of mice using the flurothyl kindling model of epileptogenesis. Exp Neurol (2008) 0.84
Confirmation of multiple seizure susceptibility QTLs on chromosome 15 in C57BL/6J and DBA/2J inbred mice. Physiol Genomics (2010) 0.82
Congenic strains provide evidence that a mapped locus on chromosome 15 influences excitotoxic cell death. Genes Brain Behav (2010) 0.82
The role of astroglia in the epileptic brain. Front Pharmacol (2012) 0.81
Systems genetics of the lateral septal nucleus in mouse: heritability, genetic control, and covariation with behavioral and morphological traits. PLoS One (2012) 0.81
A large QTL for fear and anxiety mapped using an F2 cross can be dissected into multiple smaller QTLs. Genes Brain Behav (2013) 0.81
Mapping a mouse limbic seizure susceptibility locus on chromosome 10. Epilepsia (2011) 0.81
Susceptibility to seizure-induced excitotoxic cell death is regulated by an epistatic interaction between Chr 18 (Sicd1) and Chr 15 (Sicd2) loci in mice. PLoS One (2014) 0.80
Quantitative trait locus on distal chromosome 1 regulates the occurrence of spontaneous spike-wave discharges in DBA/2 mice. Epilepsia (2012) 0.80
A locus on mouse Ch10 influences susceptibility to limbic seizure severity: fine mapping and in silico candidate gene analysis. Genes Brain Behav (2014) 0.79
Mouse SNP Miner: an annotated database of mouse functional single nucleotide polymorphisms. BMC Genomics (2007) 0.79
Audiogenic seizure proneness requires the contribution of two susceptibility loci in mice. Neurogenetics (2011) 0.77
Segregation of seizure traits in C57 black mouse substrains using the repeated-flurothyl model. PLoS One (2014) 0.77
Common variants of KCNJ10 are associated with susceptibility and anti-epileptic drug resistance in chinese genetic generalized epilepsies. PLoS One (2015) 0.76
The genetics of status epilepticus. Epilepsia (2009) 0.75
A potassium channel is associated with resistance to epilepsy. Epilepsy Curr (2005) 0.75
Mouse ERG K(+) channel clones reveal differences in protein trafficking and function. J Am Heart Assoc (2014) 0.75
Multidimensional Genetic Analysis of Repeated Seizures in the Hybrid Mouse Diversity Panel Reveals a Novel Epileptogenesis Susceptibility Locus. G3 (Bethesda) (2017) 0.75
Genealogies of mouse inbred strains. Nat Genet (2000) 8.06
The mosaic structure of variation in the laboratory mouse genome. Nature (2002) 6.54
A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res (1991) 6.26
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet (1998) 4.91
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet (1998) 4.89
The roads from phenotypic variation to gene discovery: mutagenesis versus QTLs. Nat Genet (2000) 4.28
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet (1998) 4.25
The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit. Nat Genet (1998) 3.31
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet (1995) 3.15
Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell (1996) 3.08
Genetic inactivation of an inwardly rectifying potassium channel (Kir4.1 subunit) in mice: phenotypic impact in retina. J Neurosci (2000) 2.72
A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation. Nat Genet (1995) 2.63
Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination. J Neurosci (2001) 2.23
Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. Cell (1997) 2.13
KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential. Am J Physiol Cell Physiol (2002) 2.08
Normal cerebellar development but susceptibility to seizures in mice lacking G protein-coupled, inwardly rectifying K+ channel GIRK2. Proc Natl Acad Sci U S A (1997) 1.88
A novel ATP-dependent inward rectifier potassium channel expressed predominantly in glial cells. J Biol Chem (1995) 1.81
Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells. J Neurosci (2001) 1.77
Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. Cell (1997) 1.75
A major effect QTL determined by multiple genes in epileptic EL mice. Genome Res (2000) 1.64
Electroconvulsive thresholds of inbred mouse strains. Genomics (2001) 1.58
Mapping loci for pentylenetetrazol-induced seizure susceptibility in mice. J Neurosci (1999) 1.52
Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility. Epilepsy Res (2004) 1.42
Quantitative trait loci involved in genetic predisposition to acute alcohol withdrawal in mice. J Neurosci (1997) 1.41
Biophysical and molecular mechanisms underlying the modulation of heteromeric Kir4.1-Kir5.1 channels by CO2 and pH. J Gen Physiol (2000) 1.34
Voltage-gated sodium channels in epilepsy. Epilepsia (2002) 1.24
Mapping murine loci for seizure response to kainic acid. Mamm Genome (1997) 1.15
Degeneration of the amygdala/piriform cortex and enhanced fear/anxiety behaviors in sodium pump alpha2 subunit (Atp1a2)-deficient mice. J Neurosci (2003) 1.14
Quantitative trait loci affecting risk for pentobarbital withdrawal map near alcohol withdrawal loci on mouse chromosomes 1, 4, and 11. Mamm Genome (1999) 1.11
Genetic analysis of susceptibility to isoniazid-induced seizures in mice. Genetics (1976) 1.08
QTL analysis and genomewide mutagenesis in mice: complementary genetic approaches to the dissection of complex traits. Behav Genet (2001) 1.06
Quantitative genetic study of maximal electroshock seizure threshold in mice: evidence for a major seizure susceptibility locus on distal chromosome 1. Genomics (2001) 1.05
The Na,K-ATPase alpha 2 isoform is expressed in neurons, and its absence disrupts neuronal activity in newborn mice. J Biol Chem (2002) 1.04
Mice transgenically overexpressing sulfonylurea receptor 1 in forebrain resist seizure induction and excitotoxic neuron death. Proc Natl Acad Sci U S A (2001) 0.98
Ontogeny of gene expression of Kir channel subunits in the rat. Mol Cell Neurosci (1997) 0.96
Potassium channels as anti-epileptic drug targets. Neuropharmacology (2002) 0.96
Mouse strain variation in maximal electroshock seizure threshold. Brain Res (2002) 0.93
Seizure susceptibility in DBA and C57 mice: the effects of various convulsants. Epilepsia (1988) 0.90
Genetic influences on electrical seizure threshold. Brain Res (1998) 0.90
Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes. Epilepsy Res (2002) 0.88
Multiple seizure susceptibility genes on chromosome 7 in SWXL-4 congenic mouse strains. Genomics (2000) 0.83
Genotyping microsatellite polymorphisms by agarose gel electrophoresis with ethidium bromide staining: application to quantitative trait loci analysis of seizure susceptibility in mice. Psychiatr Genet (1998) 0.78
Genetic differences in fatal audiogenic seizures between two inbred strains of house mice. J Hered (1947) 0.78
A new strain congenic for the Mtv-7/Mls-1 locus of mouse chromosome 1. Immunogenetics (1993) 0.76
Pharmacogenetic correlates of pentylenetetrazol and electroconvulsive seizure thresholds in mice. Psychopharmacologia (1968) 0.75
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6. Genes Dev (2002) 8.19
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Expression of Cre Recombinase in the developing mouse limb bud driven by a Prxl enhancer. Genesis (2002) 6.11
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
Hippo pathway inhibits Wnt signaling to restrain cardiomyocyte proliferation and heart size. Science (2011) 4.76
On a semiparametric test to detect associations between quantitative traits and candidate genes using unrelated individuals. Genet Epidemiol (2003) 4.67
Osteo-chondroprogenitor cells are derived from Sox9 expressing precursors. Proc Natl Acad Sci U S A (2005) 4.25
Analysis of transcription factor HY5 genomic binding sites revealed its hierarchical role in light regulation of development. Plant Cell (2007) 4.13
Altered neuregulin 1-erbB4 signaling contributes to NMDA receptor hypofunction in schizophrenia. Nat Med (2006) 4.00
Association mapping, using a mixture model for complex traits. Genet Epidemiol (2002) 3.95
Comparison of statistical methods for classification of ovarian cancer using mass spectrometry data. Bioinformatics (2003) 3.78
Expression profiling reveals novel pathways in the transformation of melanocytes to melanomas. Cancer Res (2004) 3.64
Serum protein markers for early detection of ovarian cancer. Proc Natl Acad Sci U S A (2005) 3.22
Inactivating E2f1 reverts apoptosis resistance and cancer sensitivity in Trp53-deficient mice. Nat Cell Biol (2003) 3.05
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
Computer-assisted personalized sedation for upper endoscopy and colonoscopy: a comparative, multicenter randomized study. Gastrointest Endosc (2010) 2.96
Bmp2 is essential for cardiac cushion epithelial-mesenchymal transition and myocardial patterning. Development (2005) 2.92
The genetic determinants of smoking. Chest (2003) 2.88
A cluster of cholinergic premotor interneurons modulates mouse locomotor activity. Neuron (2009) 2.75
BGI-RIS: an integrated information resource and comparative analysis workbench for rice genomics. Nucleic Acids Res (2004) 2.69
Genetic analysis of variation in transcription factor binding in yeast. Nature (2010) 2.69
A transcriptome atlas of rice cell types uncovers cellular, functional and developmental hierarchies. Nat Genet (2009) 2.53
Distinct functions for Bmp signaling in lip and palate fusion in mice. Development (2005) 2.46
Strong association of the alcohol dehydrogenase 1B gene (ADH1B) with alcohol dependence and alcohol-induced medical diseases. Biol Psychiatry (2011) 2.45
A statistical method for identifying differential gene-gene co-expression patterns. Bioinformatics (2004) 2.23
HAPLORE: a program for haplotype reconstruction in general pedigrees without recombination. Bioinformatics (2004) 2.16
Genomewide linkage scan for opioid dependence and related traits. Am J Hum Genet (2006) 2.15
Information assessment on predicting protein-protein interactions. BMC Bioinformatics (2004) 2.14
Practical population group assignment with selected informative markers: characteristics and properties of Bayesian clustering via STRUCTURE. Genet Epidemiol (2005) 2.09
Bmp2 is critical for the murine uterine decidual response. Mol Cell Biol (2007) 2.09
ras mutations are associated with aggressive tumor phenotypes and poor prognosis in thyroid cancer. J Clin Oncol (2003) 2.07
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet (2009) 2.07
Haplotypes at the OPRM1 locus are associated with susceptibility to substance dependence in European-Americans. Am J Med Genet B Neuropsychiatr Genet (2003) 2.07
Pathway analysis using random forests classification and regression. Bioinformatics (2006) 2.01
Regulatory divergence modifies limb length between mammals. Genes Dev (2008) 1.96
Genetic variants of Nogo-66 receptor with possible association to schizophrenia block myelin inhibition of axon growth. J Neurosci (2008) 1.96
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain (2013) 1.95
A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. Science (2004) 1.95
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Bmp4 signaling is required for outflow-tract septation and branchial-arch artery remodeling. Proc Natl Acad Sci U S A (2004) 1.93
Bias detection and correction in RNA-Sequencing data. BMC Bioinformatics (2011) 1.93
Control of T helper 2 responses by transcription factor IRF4-dependent dendritic cells. Immunity (2013) 1.88
Mood-incongruent psychotic features in bipolar disorder: familial aggregation and suggestive linkage to 2p11-q14 and 13q21-33. Am J Psychiatry (2007) 1.85
Pitx2 prevents susceptibility to atrial arrhythmias by inhibiting left-sided pacemaker specification. Proc Natl Acad Sci U S A (2010) 1.84
Organ-specific expression of Arabidopsis genome during development. Plant Physiol (2005) 1.83
Hippo signaling impedes adult heart regeneration. Development (2013) 1.81
Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents. Hepatology (2011) 1.79
Rare nonsynonymous variants in alpha-4 nicotinic acetylcholine receptor gene protect against nicotine dependence. Biol Psychiatry (2011) 1.76
Conditional deletion of Smad1 and Smad5 in somatic cells of male and female gonads leads to metastatic tumor development in mice. Mol Cell Biol (2007) 1.72
The direction of gut looping is established by changes in the extracellular matrix and in cell:cell adhesion. Proc Natl Acad Sci U S A (2008) 1.72
A common variant in the patatin-like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents. Hepatology (2010) 1.71
A microarray analysis of the rice transcriptome and its comparison to Arabidopsis. Genome Res (2005) 1.71
Paired-related homeobox gene Prx1 is required for pulmonary vascular development. Circ Res (2004) 1.71
Symptom fluctuation in eating disorders: correlates of diagnostic crossover. Am J Psychiatry (2005) 1.69
Relay ring-closing metathesis (RRCM): a strategy for directing metal movement throughout olefin metathesis sequences. J Am Chem Soc (2004) 1.69
Modeling supravalvular aortic stenosis syndrome with human induced pluripotent stem cells. Circulation (2012) 1.69
Two-stage designs in case-control association analysis. Genetics (2006) 1.65
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci U S A (2010) 1.60
Pitx2c patterns anterior myocardium and aortic arch vessels and is required for local cell movement into atrioventricular cushions. Development (2002) 1.60
The chirality of gut rotation derives from left-right asymmetric changes in the architecture of the dorsal mesentery. Dev Cell (2008) 1.60
Noninvasive analysis of the sputum transcriptome discriminates clinical phenotypes of asthma. Am J Respir Crit Care Med (2015) 1.58
A self-regulatory system of interlinked signaling feedback loops controls mouse limb patterning. Science (2009) 1.58
Mining the structural genomics pipeline: identification of protein properties that affect high-throughput experimental analysis. J Mol Biol (2004) 1.57
Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development. Development (2005) 1.57
Personality characteristics of women before and after recovery from an eating disorder. Psychol Med (2004) 1.57
The meiosis-specific zip4 protein regulates crossover distribution by promoting synaptonemal complex formation together with zip2. Dev Cell (2006) 1.57
Rapid generation of maturationally synchronized human dendritic cells: contribution to the clinical efficacy of extracorporeal photochemotherapy. Blood (2010) 1.56
Association of haplotypic variants in DRD2, ANKK1, TTC12 and NCAM1 to alcohol dependence in independent case control and family samples. Hum Mol Genet (2007) 1.55
Analyzing cellular biochemistry in terms of molecular networks. Annu Rev Biochem (2004) 1.55
Haplotype-association analysis. Adv Genet (2008) 1.55
Characterization of progenitor domains in the developing mouse thalamus. J Comp Neurol (2007) 1.55
The prevalence of undiagnosed and unrecognized primary hyperparathyroidism: a population-based analysis from the electronic medical record. Surgery (2013) 1.53
Deletion of G protein-coupled receptor 48 leads to ocular anterior segment dysgenesis (ASD) through down-regulation of Pitx2. Proc Natl Acad Sci U S A (2008) 1.53
The impacts of errors in individual genotyping and DNA pooling on association studies. Genet Epidemiol (2004) 1.52
PathMAPA: a tool for displaying gene expression and performing statistical tests on metabolic pathways at multiple levels for Arabidopsis. BMC Bioinformatics (2003) 1.52
Genetic dissection of Pitx2 in craniofacial development uncovers new functions in branchial arch morphogenesis, late aspects of tooth morphogenesis and cell migration. Development (2003) 1.52
FRS2α-mediated FGF signals suppress premature differentiation of cardiac stem cells through regulating autophagy activity. Circ Res (2011) 1.52
Genomic evidence for COP1 as a repressor of light-regulated gene expression and development in Arabidopsis. Plant Cell (2002) 1.52
Temporal patterns of recovery across eating disorder subtypes. Aust N Z J Psychiatry (2008) 1.52
Regulation of a transient receptor potential (TRP) channel by tyrosine phosphorylation. SRC family kinase-dependent tyrosine phosphorylation of TRPV4 on TYR-253 mediates its response to hypotonic stress. J Biol Chem (2003) 1.50
Comparisons of multi-marker association methods to detect association between a candidate region and disease. Genet Epidemiol (2010) 1.50
Threshold-specific requirements for Bmp4 in mandibular development. Dev Biol (2005) 1.50
Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q. Neuropsychopharmacology (2011) 1.50
Bmp signaling regulates myocardial differentiation from cardiac progenitors through a MicroRNA-mediated mechanism. Dev Cell (2010) 1.49
Susceptibility loci for murine HIV-associated nephropathy encode trans-regulators of podocyte gene expression. J Clin Invest (2009) 1.49
FTO gene SNPs associated with extreme obesity in cases, controls and extremely discordant sister pairs. BMC Med Genet (2008) 1.48
Shox2 is essential for the differentiation of cardiac pacemaker cells by repressing Nkx2-5. Dev Biol (2009) 1.46
Canonical Wnt signaling functions in second heart field to promote right ventricular growth. Proc Natl Acad Sci U S A (2007) 1.46
Protein-DNA interaction mapping using genomic tiling path microarrays in Drosophila. Proc Natl Acad Sci U S A (2003) 1.46
Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease. Hum Mol Genet (2002) 1.44
BMP4 is required in the anterior heart field and its derivatives for endocardial cushion remodeling, outflow tract septation, and semilunar valve development. Dev Dyn (2008) 1.44
A comparison of several methods for haplotype frequency estimation and haplotype reconstruction for tightly linked markers from general pedigrees. Genet Epidemiol (2006) 1.43
Molecular architecture of the chick vestibular hair bundle. Nat Neurosci (2013) 1.43
Human impacts have shaped historical and recent evolution in Aedes aegypti, the dengue and yellow fever mosquito. Evolution (2013) 1.42
Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus. Proc Natl Acad Sci U S A (2002) 1.42
Bmp4 in limb bud mesoderm regulates digit pattern by controlling AER development. Dev Biol (2004) 1.41
Features associated with excessive exercise in women with eating disorders. Int J Eat Disord (2006) 1.40
Analysis of far-red light-regulated genome expression profiles of phytochrome A pathway mutants in Arabidopsis. Plant J (2002) 1.40
VitaPad: visualization tools for the analysis of pathway data. Bioinformatics (2004) 1.39