Published in Mamm Genome on October 09, 2007
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Dissection of a QTL hotspot on mouse distal chromosome 1 that modulates neurobehavioral phenotypes and gene expression. PLoS Genet (2008) 1.64
Identification of the sensory neuron specific regulatory region for the mouse gene encoding the voltage-gated sodium channel NaV1.8. J Neurochem (2008) 0.85
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The role of REST and HDAC2 in epigenetic dysregulation of Nav1.5 and nNav1.5 expression in breast cancer. Cancer Cell Int (2017) 0.75
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Scanning human gene deserts for long-range enhancers. Science (2003) 9.75
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Sodium channel Na(v)1.6 is localized at nodes of ranvier, dendrites, and synapses. Proc Natl Acad Sci U S A (2000) 3.41
Genome-wide analysis of repressor element 1 silencing transcription factor/neuron-restrictive silencing factor (REST/NRSF) target genes. Proc Natl Acad Sci U S A (2004) 3.39
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The many faces of REST oversee epigenetic programming of neuronal genes. Curr Opin Neurobiol (2005) 3.25
Comparative genomics modeling of the NRSF/REST repressor network: from single conserved sites to genome-wide repertoire. Genome Res (2006) 3.23
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A highly conserved enhancer in the Dlx5/Dlx6 intergenic region is the site of cross-regulatory interactions between Dlx genes in the embryonic forebrain. J Neurosci (2000) 2.98
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SCNM1, a putative RNA splicing factor that modifies disease severity in mice. Science (2003) 2.34
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. J Med Genet (2005) 1.90
mef2c is activated directly by myogenic basic helix-loop-helix proteins during skeletal muscle development in vivo. Mech Dev (2003) 1.66
A YY1-binding site is required for accurate human LINE-1 transcription initiation. Nucleic Acids Res (2004) 1.59
Efficient identification of regulatory sequences in the chicken genome by a powerful combination of embryo electroporation and genome comparison. Mech Dev (2004) 1.53
A novel, abundant sodium channel expressed in neurons and glia. J Neurosci (1995) 1.48
Impaired motor function in mice with cell-specific knockout of sodium channel Scn8a (NaV1.6) in cerebellar purkinje neurons and granule cells. J Neurophysiol (2006) 1.43
Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions. Genetica (2004) 1.43
Transcriptional regulation: cancer, neurons and the REST. Curr Biol (2005) 1.41
Gene duplications and evolution of vertebrate voltage-gated sodium channels. J Mol Evol (2006) 1.32
Evolution and divergence of sodium channel genes in vertebrates. Proc Natl Acad Sci U S A (2001) 1.22
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The POU gene Brn-5 is induced by neuregulin and is restricted to myelinating Schwann cells. Mol Cell Neurosci (2001) 1.00
Multiple transcripts of sodium channel SCN8A (Na(V)1.6) with alternative 5'- and 3'-untranslated regions and initial characterization of the SCN8A promoter. Genomics (2005) 0.97
In vivo identification of a 107-base pair promoter element mediating neuron-specific expression of mouse gonadotropin-releasing hormone. Mol Endocrinol (2006) 0.91
Transcription regulation and human diseases. Swiss Med Wkly (2004) 0.87
A novel complex regulates cardiac actin gene expression through interaction of Emb, a class VI POU domain protein, MEF2D, and the histone transacetylase p300. Mol Cell Biol (2004) 0.87
A novel class of murine POU gene predominantly expressed in central nervous system. J Biol Chem (1993) 0.84
Expression of the POU transcription factor Brn-5 is an early event in the terminal differentiation of CNS neurons. J Neurosci Res (1998) 0.83
Identification of novel DNA binding sites recognized by the transcription factor mPOU (POU6F1). Biochem Biophys Res Commun (1996) 0.83
The promoter of brain-specific angiogenesis inhibitor 1-associated protein 4 drives developmentally targeted transgene expression mainly in adult cerebral cortex and hippocampus. FEBS Lett (2004) 0.82
0.2kb promoter sequence of the murine Cyp19 gene target beta-galactosidase expression to specific brain areas of transgenic mice. J Steroid Biochem Mol Biol (2006) 0.78
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature (2007) 3.91
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet (2012) 3.58
Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet (2012) 3.33
Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice. Proc Natl Acad Sci U S A (2007) 2.41
SCNM1, a putative RNA splicing factor that modifies disease severity in mice. Science (2003) 2.34
Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice. Nature (2003) 2.22
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet (2009) 2.22
VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse. EMBO J (2008) 2.08
Inherited neuronal ion channelopathies: new windows on complex neurological diseases. J Neurosci (2008) 2.04
Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nat Genet (2005) 1.99
Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2. Hum Mol Genet (2009) 1.84
Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities. J Biol Chem (2010) 1.70
Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability. Front Genet (2013) 1.69
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. Brain (2008) 1.55
Hypomorphic expression of Dkk1 in the doubleridge mouse: dose dependence and compensatory interactions with Lrp6. Development (2004) 1.50
The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function. Genes Dev (2012) 1.48
Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism. Ann Neurol (2013) 1.45
Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice. Hum Mol Genet (2009) 1.45
Impaired motor function in mice with cell-specific knockout of sodium channel Scn8a (NaV1.6) in cerebellar purkinje neurons and granule cells. J Neurophysiol (2006) 1.43
Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy. Neurosci Lett (2008) 1.40
In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P. Proc Natl Acad Sci U S A (2012) 1.39
Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6). Hum Mol Genet (2002) 1.29
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. PLoS Genet (2011) 1.27
Tob1 controls dorsal development of zebrafish embryos by antagonizing maternal beta-catenin transcriptional activity. Dev Cell (2006) 1.19
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. Brain (2011) 1.18
The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking. J Neurosci (2009) 1.16
Inactivation of sodium channel Scn8A (Na-sub(v)1.6) in Purkinje neurons impairs learning in Morris water maze and delay but not trace eyeblink classical conditioning. Behav Neurosci (2006) 1.14
Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. Hum Mol Genet (2012) 1.13
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet (2013) 1.13
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. Pediatr Neurol (2006) 1.13
Induction of the Wnt antagonist, Dickkopf-1, contributes to the development of neuronal death in models of brain focal ischemia. J Cereb Blood Flow Metab (2008) 1.13
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Arch Neurol (2011) 1.12
Gut bacterial translocation is associated with microinflammation in end-stage renal disease patients. Nephrology (Carlton) (2012) 1.11
Evidence for a direct role of the disease modifier SCNM1 in splicing. Hum Mol Genet (2007) 1.08
Persistent Nav1.6 current at axon initial segments tunes spike timing of cerebellar granule cells. J Physiol (2010) 1.06
A null mutation of the neuronal sodium channel NaV1.6 disrupts action potential propagation and excitation-contraction coupling in the mouse heart. FASEB J (2011) 1.03
En1 and Wnt7a interact with Dkk1 during limb development in the mouse. Dev Biol (2004) 1.02
Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. PLoS Genet (2011) 1.01
Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4. J Neurosci (2011) 0.98
The ANK3 bipolar disorder gene regulates psychiatric-related behaviors that are modulated by lithium and stress. Biol Psychiatry (2012) 0.98
Floxed allele for conditional inactivation of the voltage-gated sodium channel Scn8a (NaV1.6). Genesis (2004) 0.97
Modulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)P₂ and PI(5)P. EMBO J (2012) 0.97
Multiple transcripts of sodium channel SCN8A (Na(V)1.6) with alternative 5'- and 3'-untranslated regions and initial characterization of the SCN8A promoter. Genomics (2005) 0.97
Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome. PLoS One (2013) 0.96
Modeling human epilepsy by TALEN targeting of mouse sodium channel Scn8a. Genesis (2013) 0.96
The C-terminal tail of presenilin regulates Omi/HtrA2 protease activity. J Biol Chem (2004) 0.95
Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A. Mol Cell Neurosci (2011) 0.95
Doubleridge, a mouse mutant with defective compaction of the apical ectodermal ridge and normal dorsal-ventral patterning of the limb. Dev Biol (2003) 0.95
High-resolution mapping of the sodium channel modifier Scnm1 on mouse chromosome 3 and identification of a 1.3-kb recombination hot spot. Genomics (2003) 0.94
Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Na(v)1.6) and a genetically linked retinal mutation, rd13. Mamm Genome (2004) 0.94
A hot spot for hotfoot mutations in the gene encoding the delta2 glutamate receptor. Eur J Neurosci (2003) 0.94
Sacred disease secrets revealed: the genetics of human epilepsy. Hum Mol Genet (2005) 0.93
Genetic interaction between Wnt7a and Lrp6 during patterning of dorsal and posterior structures of the mouse limb. Dev Dyn (2005) 0.92
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. Neurology (2014) 0.92
TSRC1, a widely expressed gene containing seven thrombospondin type I repeats. Gene (2003) 0.91
Sacred disease secrets revealed: the genetics of human epilepsy. Hum Mol Genet (2005) 0.91
Interaction of voltage-gated sodium channel Nav1.6 (SCN8A) with microtubule-associated protein Map1b. J Biol Chem (2012) 0.91
PtdIns(3,5)P2 and autophagy in mouse models of neurodegeneration. Autophagy (2010) 0.91
Progressive loss of striatal neurons causes motor dysfunction in MND2 mutant mice and is not prevented by Bcl-2. Exp Neurol (2002) 0.89
Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor. Parkinsonism Relat Disord (2008) 0.85
Motor disturbances in mice with deficiency of the sodium channel gene Scn8a show features of human dystonia. Exp Neurol (2003) 0.84
Synthesis and fluorescence properties of 5,7-diphenylquinoline and 2,5,7-triphenylquinoline derived from m-terphenylamine. Molecules (2007) 0.83
miR149 rs71428439 polymorphism and risk of clear cell renal cell carcinoma: a case-control study. Tumour Biol (2014) 0.82
Murine Fig4 is dispensable for muscle development but required for muscle function. Skelet Muscle (2013) 0.81
A targeted deleterious allele of the splicing factor SCNM1 in the mouse. Genetics (2008) 0.79
Inhibition of macrophage migration inhibitory factor reduces diabetic nephropathy in type II diabetes mice. Inflammation (2014) 0.79
De novo exon duplication in a new allele of mouse Glra1 (spasmodic). Genetics (2006) 0.79
Probiotic Bifidobacterium animalis subsp. lactis Bi-07 alleviates bacterial translocation and ameliorates microinflammation in experimental uraemia. Nephrology (Carlton) (2014) 0.78
A novel zinc finger transcription factor resembles krox-20 in structure and in expression pattern in zebrafish. Mech Dev (2002) 0.77
Response. Neuromuscul Disord (2014) 0.75
Liquid Chromatography/Mass Spectrometry Reveals the Effect of Lactobacillus Treatment on the Faecal Metabolite Profile of Rats with Chronic Renal Failure. Nephron (2016) 0.75