Type |
Details |
Score |
Publication |
First Author: |
Vega AV |
Year: |
2008 |
Journal: |
Neurosci Lett |
Title: |
Reduced expression of Na(v)1.6 sodium channels and compensation by Na(v)1.2 channels in mice heterozygous for a null mutation in Scn8a. |
Volume: |
442 |
Issue: |
1 |
Pages: |
69-73 |
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Publication |
First Author: |
Bergren SK |
Year: |
2005 |
Journal: |
Mamm Genome |
Title: |
Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a. |
Volume: |
16 |
Issue: |
9 |
Pages: |
683-90 |
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•
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Publication |
First Author: |
Litt M |
Year: |
1989 |
Journal: |
Genomics |
Title: |
Localization of a human brain sodium channel gene (SCN2A) to chromosome 2. |
Volume: |
5 |
Issue: |
2 |
Pages: |
204-8 |
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•
•
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Publication |
First Author: |
Hossain WA |
Year: |
2005 |
Journal: |
J Neurosci |
Title: |
Where is the spike generator of the cochlear nerve? Voltage-gated sodium channels in the mouse cochlea. |
Volume: |
25 |
Issue: |
29 |
Pages: |
6857-68 |
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Publication |
First Author: |
Katz E |
Year: |
2018 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Role of sodium channel subtype in action potential generation by neocortical pyramidal neurons. |
Volume: |
115 |
Issue: |
30 |
Pages: |
E7184-E7192 |
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Publication |
First Author: |
Masala N |
Year: |
2024 |
Journal: |
Elife |
Title: |
Aberrant hippocampal Ca(2+) microwaves following synapsin-dependent adeno-associated viral expression of Ca(2+) indicators. |
Volume: |
13 |
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Publication |
First Author: |
Pilz AJ |
Year: |
1993 |
Journal: |
Mamm Genome |
Title: |
Dinucleotide repeats in the mouse Hox-4.4 and Hox-4.5 genes on chromosome 2, and their analysis in the BXD and BXH recombinant inbred strains. |
Volume: |
4 |
Issue: |
2 |
Pages: |
129-30 |
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•
•
•
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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 |
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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 |
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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 |
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Pages: |
67-71 |
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Publication |
First Author: |
Ogiwara I |
Year: |
2007 |
Journal: |
J Neurosci |
Title: |
Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. |
Volume: |
27 |
Issue: |
22 |
Pages: |
5903-14 |
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Publication |
First Author: |
Zha H |
Year: |
1994 |
Journal: |
Mamm Genome |
Title: |
A single linkage group comprising 11 polymorphic DNA markers on rat chromosome 3. |
Volume: |
5 |
Issue: |
9 |
Pages: |
538-41 |
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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 |
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Pages: |
105622 |
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Publication |
First Author: |
Nakamura T |
Year: |
1998 |
Journal: |
Genomics |
Title: |
Molecular cloning, characterization, and chromosomal localization of FKBP23, a novel FK506-binding protein with Ca2+-binding ability. |
Volume: |
54 |
Issue: |
1 |
Pages: |
89-98 |
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Publication |
First Author: |
Figueroa XF |
Year: |
2007 |
Journal: |
Am J Physiol Heart Circ Physiol |
Title: |
Are voltage-dependent ion channels involved in the endothelial cell control of vasomotor tone? |
Volume: |
293 |
Issue: |
3 |
Pages: |
H1371-83 |
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•
•
•
•
•
|
Publication |
First Author: |
Beckers MC |
Year: |
1996 |
Journal: |
Genomics |
Title: |
A new sodium channel alpha-subunit gene (Scn9a) from Schwann cells maps to the Scn1a, Scn2a, Scn3a cluster of mouse chromosome 2. |
Volume: |
36 |
Issue: |
1 |
Pages: |
202-5 |
|
•
•
•
•
•
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Publication |
First Author: |
Zhang MM |
Year: |
2007 |
Journal: |
J Biol Chem |
Title: |
Structure/function characterization of micro-conotoxin KIIIA, an analgesic, nearly irreversible blocker of mammalian neuronal sodium channels. |
Volume: |
282 |
Issue: |
42 |
Pages: |
30699-706 |
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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 |
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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 |
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Publication |
First Author: |
Poeta L |
Year: |
2019 |
Journal: |
Hum Mol Genet |
Title: |
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders. |
Volume: |
28 |
Issue: |
24 |
Pages: |
4089-4102 |
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Publication |
First Author: |
Ballas N |
Year: |
2005 |
Journal: |
Cell |
Title: |
REST and its corepressors mediate plasticity of neuronal gene chromatin throughout neurogenesis. |
Volume: |
121 |
Issue: |
4 |
Pages: |
645-57 |
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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 |
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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 |
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Publication |
First Author: |
Notwell JH |
Year: |
2016 |
Journal: |
Genome Res |
Title: |
TBR1 regulates autism risk genes in the developing neocortex. |
Volume: |
26 |
Issue: |
8 |
Pages: |
1013-22 |
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Publication |
First Author: |
Kim HJ |
Year: |
2006 |
Journal: |
J Neurosci |
Title: |
WAVE1 is required for oligodendrocyte morphogenesis and normal CNS myelination. |
Volume: |
26 |
Issue: |
21 |
Pages: |
5849-59 |
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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 |
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Publication |
First Author: |
Hu XL |
Year: |
2011 |
Journal: |
Cereb Cortex |
Title: |
Conditional deletion of NRSF in forebrain neurons accelerates epileptogenesis in the kindling model. |
Volume: |
21 |
Issue: |
9 |
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First Author: |
Oh H |
Year: |
2023 |
Journal: |
Nat Commun |
Title: |
Kv7/KCNQ potassium channels in cortical hyperexcitability and juvenile seizure-related death in Ank2-mutant mice. |
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First Author: |
Kondo Y |
Year: |
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Journal: |
Mamm Genome |
Title: |
DNA segments mapped by reciprocal use of microsatellite primers between mouse and rat. |
Volume: |
4 |
Issue: |
10 |
Pages: |
571-6 |
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Cyagen Biosciences Inc. |
Year: |
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First Author: |
NIH Mouse Knockout Inventory |
Year: |
2004 |
Journal: |
MGI Direct Data Submission |
Title: |
Information obtained from the NIH Mouse Knockout Inventory |
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Publication |
First Author: |
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Year: |
2021 |
Journal: |
Front Mol Neurosci |
Title: |
Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. |
Volume: |
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First Author: |
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Genome Res |
Title: |
Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. |
Volume: |
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First Author: |
The Gene Ontology Consortium |
Year: |
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Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs |
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Kawai J |
Year: |
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Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
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First Author: |
MGD Nomenclature Committee |
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Title: |
Nomenclature Committee Use |
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First Author: |
GemPharmatech |
Year: |
2020 |
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Title: |
GemPharmatech Website. |
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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 |
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First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
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Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
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Year: |
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Year: |
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Title: |
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Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
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First Author: |
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Year: |
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PLoS Biol |
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Volume: |
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Mouse Genome Informatics Scientific Curators |
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Mouse Genome Informatics Computational Sequence to Gene Associations |
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First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
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Mouse Genome Database and National Center for Biotechnology Information |
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Title: |
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First Author: |
Allen Institute for Brain Science |
Year: |
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Journal: |
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Title: |
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First Author: |
Mouse Genome Informatics Scientific Curators |
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Database Download |
Title: |
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
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Journal: |
Database Download |
Title: |
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Mouse Genome Informatics Group |
Year: |
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Database Procedure |
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Journal: |
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Title: |
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First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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Mouse Genome Informatics |
Year: |
2010 |
Journal: |
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Title: |
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First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
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Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
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Journal: |
Database Download |
Title: |
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Publication |
First Author: |
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Year: |
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Journal: |
iScience |
Title: |
Scn2a insufficiency alters spontaneous neuronal Ca(2+) activity in somatosensory cortex during wakefulness. |
Volume: |
26 |
Issue: |
11 |
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Publication |
First Author: |
Kearney JA |
Year: |
2001 |
Journal: |
Neuroscience |
Title: |
A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities. |
Volume: |
102 |
Issue: |
2 |
Pages: |
307-17 |
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Allele |
Name: |
sodium channel, voltage-gated, type II, alpha; targeted mutation 2, Cyagen Biosciences |
Allele Type: |
Targeted |
Attribute String: |
Inserted expressed sequence, Null/knockout |
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DO Term |
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Strain |
Attribute String: |
coisogenic, targeted mutation, mutant strain |
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Publication |
First Author: |
Thompson CH |
Year: |
2017 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
CaMKII modulates sodium current in neurons from epileptic Scn2a mutant mice. |
Volume: |
114 |
Issue: |
7 |
Pages: |
1696-1701 |
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DO Term |
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DO Term |
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Publication |
First Author: |
Gunther EC |
Year: |
2019 |
Journal: |
Cell Rep |
Title: |
Rescue of Transgenic Alzheimer's Pathophysiology by Polymeric Cellular Prion Protein Antagonists. |
Volume: |
26 |
Issue: |
1 |
Pages: |
145-158.e8 |
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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 |
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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 , , . |
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Publication |
First Author: |
Martin MS |
Year: |
2007 |
Journal: |
Hum Mol Genet |
Title: |
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. |
Volume: |
16 |
Issue: |
23 |
Pages: |
2892-9 |
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Publication |
First Author: |
Makinson CD |
Year: |
2014 |
Journal: |
Neurobiol Dis |
Title: |
Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance. |
Volume: |
68 |
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Pages: |
16-25 |
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Publication |
First Author: |
Rosenmann H |
Year: |
2001 |
Journal: |
J Neurochem |
Title: |
Prion protein with an E200K mutation displays properties similar to those of the cellular isoform PrP(C). |
Volume: |
76 |
Issue: |
6 |
Pages: |
1654-62 |
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Publication |
First Author: |
Calhoun JD |
Year: |
2016 |
Journal: |
Epilepsia |
Title: |
Cacna1g is a genetic modifier of epilepsy caused by mutation of voltage-gated sodium channel Scn2a. |
Volume: |
57 |
Issue: |
6 |
Pages: |
e103-7 |
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•
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Publication |
First Author: |
Bergren SK |
Year: |
2009 |
Journal: |
Mamm Genome |
Title: |
Fine mapping of an epilepsy modifier gene on mouse Chromosome 19. |
Volume: |
20 |
Issue: |
6 |
Pages: |
359-66 |
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Publication |
First Author: |
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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 |
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Scn1a-GFP transgenic mouse revealed Nav1.1 expression in neocortical pyramidal tract projection neurons. |
Volume: |
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Protein Sci |
Title: |
Chimeric prion protein expression in cultured cells and transgenic mice. |
Volume: |
1 |
Issue: |
8 |
Pages: |
986-97 |
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Publication |
First Author: |
Jiang YH |
Year: |
2013 |
Journal: |
Am J Hum Genet |
Title: |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. |
Volume: |
93 |
Issue: |
2 |
Pages: |
249-63 |
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•
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Publication |
First Author: |
Bate C |
Year: |
2016 |
Journal: |
J Biol Chem |
Title: |
Sialic Acid on the Glycosylphosphatidylinositol Anchor Regulates PrP-mediated Cell Signaling and Prion Formation. |
Volume: |
291 |
Issue: |
1 |
Pages: |
160-70 |
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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 |
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•
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•
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Publication |
First Author: |
Oliva MK |
Year: |
2014 |
Journal: |
Neurobiol Dis |
Title: |
Physiological and genetic analysis of multiple sodium channel variants in a model of genetic absence epilepsy. |
Volume: |
67 |
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Pages: |
180-90 |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
500
 |
Fragment?: |
true |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
2009
 |
Fragment?: |
false |
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Publication |
First Author: |
Noda M |
Year: |
1984 |
Journal: |
Nature |
Title: |
Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence. |
Volume: |
312 |
Issue: |
5990 |
Pages: |
121-7 |
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•
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Publication |
First Author: |
George AL Jr |
Year: |
1992 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family. |
Volume: |
89 |
Issue: |
11 |
Pages: |
4893-7 |
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•
•
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Publication |
First Author: |
Goldfarb M |
Year: |
2012 |
Journal: |
Cell Mol Life Sci |
Title: |
Voltage-gated sodium channel-associated proteins and alternative mechanisms of inactivation and block. |
Volume: |
69 |
Issue: |
7 |
Pages: |
1067-76 |
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Publication |
First Author: |
Kaplan DI |
Year: |
2016 |
Journal: |
Cold Spring Harb Perspect Med |
Title: |
Role of Sodium Channels in Epilepsy. |
Volume: |
6 |
Issue: |
6 |
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•
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Publication |
First Author: |
Sato C |
Year: |
1992 |
Journal: |
Biochem Biophys Res Commun |
Title: |
Proposed tertiary structure of the sodium channel. |
Volume: |
186 |
Issue: |
2 |
Pages: |
1158-67 |
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