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Search results 201 to 300 out of 307 for Scn1a

0.054s
Type Details Score
Publication  
First Author: Valkova C
Year: 2017
Journal: Sci Rep
Title: The sorting receptor Rer1 controls Purkinje cell function via voltage gated sodium channels.
Volume: 7
Pages: 41248
Publication
First Author: Rubinstein M
Year: 2015
Journal: Brain
Title: Dissecting the phenotypes of Dravet syndrome by gene deletion.
Volume: 138
Issue: Pt 8
Pages: 2219-33
Publication
First Author: Kim DY
Year: 2011
Journal: J Biol Chem
Title: Reduced sodium channel Na(v)1.1 levels in BACE1-null mice.
Volume: 286
Issue: 10
Pages: 8106-16
Publication
First Author: Albrieux M
Year: 2004
Journal: J Neurosci
Title: Early expression of sodium channel transcripts and sodium current by cajal-retzius cells in the preplate of the embryonic mouse neocortex.
Volume: 24
Issue: 7
Pages: 1719-25
Publication
First Author: Kalume F
Year: 2007
Journal: J Neurosci
Title: Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy.
Volume: 27
Issue: 41
Pages: 11065-74
Publication
First Author: Tai C
Year: 2014
Journal: Proc Natl Acad Sci U S A
Title: Impaired excitability of somatostatin- and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome.
Volume: 111
Issue: 30
Pages: E3139-48
Publication
First Author: Maljevic S
Year: 2017
Journal: J Neurochem
Title: Models for discovery of targeted therapy in genetic epileptic encephalopathies.
Volume: 143
Issue: 1
Pages: 30-48
Publication
First Author: Shao E
Year: 2022
Journal: Sci Transl Med
Title: TAU ablation in excitatory neurons and postnatal TAU knockdown reduce epilepsy, SUDEP, and autism behaviors in a Dravet syndrome model.
Volume: 14
Issue: 642
Pages: eabm5527
Publication  
First Author: Hodgdon KE
Year: 2012
Journal: Neuroscience
Title: Dorsal root ganglia isolated from Nf1+/- mice exhibit increased levels of mRNA expression of voltage-dependent sodium channels.
Volume: 206
Pages: 237-44
Publication    
First Author: Espino CM
Year: 2022
Journal: Elife
Title: NaV1.1 is essential for proprioceptive signaling and motor behaviors.
Volume: 11
Publication
First Author: Hanson JE
Year: 2020
Journal: Cell Rep
Title: GluN2A NMDA Receptor Enhancement Improves Brain Oscillations, Synchrony, and Cognitive Functions in Dravet Syndrome and Alzheimer's Disease Models.
Volume: 30
Issue: 2
Pages: 381-396.e4
Publication  
First Author: Somarowthu A
Year: 2021
Journal: Cell Calcium
Title: Two-photon calcium imaging of seizures in awake, head-fixed mice.
Volume: 96
Pages: 102380
Publication  
First Author: Crabbe JC
Year: 1994
Journal: Alcohol Alcohol Suppl
Title: Use of recombinant inbred strains for studying genetic determinants of responses to alcohol.
Volume: 2
Pages: 67-71
Publication  
First Author: Heighway J
Year: 2022
Journal: Neurobiol Dis
Title: Sodium channel expression and transcript variation in the developing brain of human, Rhesus monkey, and mouse.
Volume: 164
Pages: 105622
Publication
First Author: Akagi K
Year: 2008
Journal: Genome Res
Title: Extensive variation between inbred mouse strains due to endogenous L1 retrotransposition.
Volume: 18
Issue: 6
Pages: 869-80
Publication
First Author: Bice PJ
Year: 2006
Journal: Behav Genet
Title: Identification of QTLs influencing alcohol preference in the High Alcohol Preferring (HAP) and Low Alcohol Preferring (LAP) mouse lines.
Volume: 36
Issue: 2
Pages: 248-60
Publication
First Author: Tai C
Year: 2020
Journal: Neuron
Title: Tau Reduction Prevents Key Features of Autism in Mouse Models.
Volume: 106
Issue: 3
Pages: 421-437.e11
Publication
First Author: Malo D
Year: 1991
Journal: Genomics
Title: Three brain sodium channel alpha-subunit genes are clustered on the proximal segment of mouse chromosome 2.
Volume: 10
Issue: 3
Pages: 666-72
Publication
First Author: Tsunozaki M
Year: 2013
Journal: J Physiol
Title: A 'toothache tree' alkylamide inhibits Aδ mechanonociceptors to alleviate mechanical pain.
Volume: 591
Issue: 13
Pages: 3325-40
Publication
First Author: Haufe V
Year: 2005
Journal: J Physiol
Title: Expression pattern of neuronal and skeletal muscle voltage-gated Na+ channels in the developing mouse heart.
Volume: 564
Issue: Pt 3
Pages: 683-96
Publication
First Author: Malhotra JD
Year: 2004
Journal: J Biol Chem
Title: Tyrosine-phosphorylated and nonphosphorylated sodium channel beta1 subunits are differentially localized in cardiac myocytes.
Volume: 279
Issue: 39
Pages: 40748-54
Publication
First Author: Fotia AB
Year: 2004
Journal: J Biol Chem
Title: Regulation of neuronal voltage-gated sodium channels by the ubiquitin-protein ligases Nedd4 and Nedd4-2.
Volume: 279
Issue: 28
Pages: 28930-5
Publication
First Author: Crabbe JC
Year: 1994
Journal: J Pharmacol Exp Ther
Title: Quantitative trait loci mapping of genes that influence the sensitivity and tolerance to ethanol-induced hypothermia in BXD recombinant inbred mice.
Volume: 269
Issue: 1
Pages: 184-92
Publication
First Author: Tarantino LM
Year: 1998
Journal: Alcohol Clin Exp Res
Title: Confirmation of quantitative trait loci for alcohol preference in mice.
Volume: 22
Issue: 5
Pages: 1099-105
Publication    
First Author: Ogiwara I
Year: 2018
Journal: Commun Biol
Title: Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.
Volume: 1
Publication
First Author: Lopez-Santiago LF
Year: 2007
Journal: J Mol Cell Cardiol
Title: Sodium channel Scn1b null mice exhibit prolonged QT and RR intervals.
Volume: 43
Issue: 5
Pages: 636-47
Publication
First Author: de la Torre-Ubieta L
Year: 2016
Journal: Nat Med
Title: Advancing the understanding of autism disease mechanisms through genetics.
Volume: 22
Issue: 4
Pages: 345-61
Publication      
First Author: The Jackson Laboratory
Year: 2005
Journal: Unpublished
Title: Information obtained from The Jackson Laboratory, Bar Harbor, ME
Publication
First Author: Harrell MD
Year: 2007
Journal: Physiol Genomics
Title: Large-scale analysis of ion channel gene expression in the mouse heart during perinatal development.
Volume: 28
Issue: 3
Pages: 273-83
Publication      
First Author: Centre for Modeling Human Disease
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the NorCOMM project by the Centre for Modeling Human Disease (Cmhd), Institute of Biomaterials & Biomedical Engineering, University of Toronto
Publication      
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
Publication  
First Author: Tamplin OJ
Year: 2008
Journal: BMC Genomics
Title: Microarray analysis of Foxa2 mutant mouse embryos reveals novel gene expression and inductive roles for the gastrula organizer and its derivatives.
Volume: 9
Pages: 511
Publication
First Author: Miller JA
Year: 2013
Journal: Development
Title: Conserved molecular signatures of neurogenesis in the hippocampal subgranular zone of rodents and primates.
Volume: 140
Issue: 22
Pages: 4633-44
Publication      
First Author: The RIKEN BioResource Center
Year: 2006
Journal: Unpublished
Title: Information obtained from The RIKEN BioResource Center
Publication      
First Author: MGI and IMPC
Year: 2017
Journal: MGI Direct Data Submission
Title: MGI Curation of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
Publication
First Author: Thompson CL
Year: 2014
Journal: Neuron
Title: A high-resolution spatiotemporal atlas of gene expression of the developing mouse brain.
Volume: 83
Issue: 2
Pages: 309-323
Publication      
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
Publication
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Rat to Mouse ISO GO annotation transfer
Publication
First Author: Magdaleno S
Year: 2006
Journal: PLoS Biol
Title: BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Volume: 4
Issue: 4
Pages: e86
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication        
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
Publication
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication
First Author: Gaudet P
Year: 2011
Journal: Brief Bioinform
Title: Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.
Volume: 12
Issue: 5
Pages: 449-62
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Allele
Name: sodium channel, voltage-gated, type I, alpha; endonuclease-mediated mutation 1, Alexander S Nord
Allele Type: Endonuclease-mediated
Attribute String: Modified isoform(s), Modified regulatory region
Allele
Name: sodium channel, voltage-gated, type I, alpha; endonuclease-mediated mutation 2, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Not Specified
Allele
Name: sodium channel, voltage-gated, type I, alpha; endonuclease-mediated mutation 3, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
Publication
First Author: Abou-Khalil B
Year: 2001
Journal: Neurology
Title: Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.
Volume: 57
Issue: 12
Pages: 2265-72
DO Term
DO Term
Allele
Name: sodium channel, voltage-gated, type I, alpha; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Conditional ready, No functional change
Allele
Name: transgene insertion 1, Kazuhiro Yamakawa
Allele Type: Transgenic
Attribute String: Reporter
Strain
Attribute String: mutant strain, transgenic, coisogenic
Allele
Name: sodium channel, voltage-gated, type I, alpha; endonuclease-mediated mutation 1, Dravet Syndrome Foundation
Allele Type: Endonuclease-mediated
Attribute String: Humanized sequence
Allele
Name: sodium channel, voltage-gated, type I, alpha; targeted mutation 1.1, Kazuhiro Yamakawa
Allele Type: Targeted
Attribute String: Humanized sequence
Allele
Name: sodium channel, voltage-gated, type I, alpha; targeted mutation 2.1, Kazuhiro Yamakawa
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
Allele
Name: sodium channel, voltage-gated, type I, alpha; targeted mutation 1, Jennifer Kearney
Allele Type: Targeted
Attribute String: Null/knockout
Allele
Name: transgene insertion RH9, Andrew Escayg
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
Strain
Attribute String: mutant strain, endonuclease-mediated mutation, coisogenic
Allele
Name: sodium channel, voltage-gated, type I, alpha; targeted mutation 2.1, William A Catterall
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
Allele
Name: sodium channel, voltage-gated, type I, alpha; targeted mutation 1, William A Catterall
Allele Type: Targeted
Attribute String: Null/knockout
Genotype
Symbol: Scn1a/Scn1a<+>
Background: involves: 129S1/Sv * 129X1/SvJ * FVB/NJ
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Scn1a/Scn1a<+> Tg(I12b-cre)1Jlr/?
Background: involves: C57BL/6J * CD-1
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Scn1a/Scn1a<+>
Background: (C57BL/6J x 129S6/SvEvTac-Scn1a)F1
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Scn1a/Scn1a<+> Tg(Pvalb-cre)1Tama/?
Background: involves: 129P2/OlaHsd * C57BL/6 * DBA
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Scn1a/Scn1a Tg(Pvalb-cre)1Tama/?
Background: involves: 129P2/OlaHsd * C57BL/6 * DBA
Zygosity: cn
Has Mutant Allele: true
DO Term
Genotype
Symbol: Scn1a/Scn1a<+>
Background: involves: 129P2/OlaHsd * C3HeB/FeJ
Zygosity: ht
Has Mutant Allele: true
DO Term
Genotype
Symbol: Tg(Scn1a*)RH9Aesc/?
Background: involves: FVB/NJ
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Scn1a/Scn1a<+>
Background: B6.129-Scn1a
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Scn1a/Scn1a<+> Tg(I12b-cre)1Jlr/?
Background: involves: 129X1/SvJ * C57BL/6J
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Scn1a/Scn1a<+> Tg(Scn1a*)RH9Aesc/?
Background: involves: 129S1/Sv * 129X1/SvJ * FVB/NJ
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Scn1a/Scn1a Tg(Scn1a*)RH9Aesc/?
Background: involves: 129S1/Sv * 129X1/SvJ * FVB/NJ
Zygosity: cx
Has Mutant Allele: true
Publication
First Author: Meisler MH
Year: 2005
Journal: J Clin Invest
Title: Sodium channel mutations in epilepsy and other neurological disorders.
Volume: 115
Issue: 8
Pages: 2010-7
Protein Domain
Type: Family
Description: Voltage-dependent sodium channels are transmembrane (TM) proteins responsible for the depolarising phase of the action potential in mostelectrically excitable cells []. They may exist in 3 states []: the resting state, where the channel is closed; the activated state, where the channel is open; and the inactivated state, where the channel is closed and refractory to opening. Several different structurally and functionally distinct isoforms are found in mammals, coded for by a multigene family, these being responsible for the different types of sodium ion currents found in excitable tissues.There are nine pore-forming alpha subunit of voltage-gated sodium channels consisting of four membrane-embedded homologous domains (I-IV), each consisting of six α-helical segments (S1-S6), three cytoplasmic loops connecting the domains, and a cytoplasmic C-terminal tail. The S6 segments of the four domains form the inner surface of the pore, while the S4 segments bear clusters of basic residues that constitute the channel's voltage sensors [, , ].The SCN1A gene encodes the NaB1 channel and is particularly expressed inthe brain, but is also found in a variety of other tissues, ranging from theretina to the olfactory bulb. Epilepsy, a disorder of neuronalhyperexcitability, has been associated with altered kinetics of SCN1A, aswell as delayed inactivation of SCN2A [].This entry represents the alpha 1 subunits of the voltage-gated Na+ channel superfamily. For entries containing other members of this superfamily see , , .
Publication  
First Author: Hui JB
Year: 2022
Journal: eNeuro
Title: NPRL2 Inhibition of mTORC1 Controls Sodium Channel Expression and Brain Amino Acid Homeostasis.
Volume: 9
Issue: 2
Publication
First Author: Hawkins NA
Year: 2012
Journal: Genes Brain Behav
Title: Confirmation of an epilepsy modifier locus on mouse chromosome 11 and candidate gene analysis by RNA-Seq.
Volume: 11
Issue: 4
Pages: 452-60
Publication  
First Author: Warner TA
Year: 2017
Journal: Epilepsy Res
Title: Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2+/Q390X mice.
Volume: 134
Pages: 1-8
Publication  
First Author: Meisler MH
Year: 2001
Journal: Annu Rev Genet
Title: Identification of epilepsy genes in human and mouse.
Volume: 35
Pages: 567-88
Publication
First Author: Follwaczny P
Year: 2017
Journal: Dis Model Mech
Title: Pumilio2-deficient mice show a predisposition for epilepsy.
Volume: 10
Issue: 11
Pages: 1333-1342
Publication
First Author: Singh NA
Year: 2009
Journal: PLoS Genet
Title: A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
Volume: 5
Issue: 9
Pages: e1000649
Protein
Organism: Mus musculus/domesticus
Length: 500  
Fragment?: true