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Search results 301 to 329 out of 329 for Scn1a

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0.021s

Type

Details

Score

Genotype

Symbol:	Scn1a/Scn1a<+> Tg(I12b-cre)1Jlr/?
Background:	involves: C57BL/6J * CD-1
Zygosity:	cn
Has Mutant Allele:	true

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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

•

Genotype

Symbol:	Scn1a/Scn1a<+>
Background:	(C57BL/6J x 129S6/SvEvTac-Scn1a)F1
Zygosity:	ht
Has Mutant Allele:	true

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DO Term

DOID:0080422 | Dravet syndrome

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Genotype

Symbol:	Scn1a/Scn1a<+>
Background:	involves: 129P2/OlaHsd * C3HeB/FeJ
Zygosity:	ht
Has Mutant Allele:	true

•

DO Term

DOID:0070379 | developmental and epileptic encephalopathy 6B

•

Genotype

Symbol:	Scn1a/Scn1a<+>
Background:	B6.129-Scn1a
Zygosity:	ht
Has Mutant Allele:	true

•

Genotype

Symbol:	Tg(Scn1a*)RH9Aesc/?
Background:	involves: FVB/NJ
Zygosity:	ot
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

16075041 | J:100146

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

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Protein Domain

IPR008051 | Na_channel_a1su

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

35256591 | J:359263

First Author:	Chen A
Year:	2022
Journal:	Bone Res
Title:	mTORC1 induces plasma membrane depolarization and promotes preosteoblast senescence by regulating the sodium channel Scn1a.
Volume:	10
Issue:	1
Pages:	25

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Publication

22471526 | J:198033

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

35165201 | J:333548

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

28505490 | J:271948

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

11700294 | J:73995

First Author:	Meisler MH
Year:	2001
Journal:	Annu Rev Genet
Title:	Identification of epilepsy genes in human and mouse.
Volume:	35

Pages:	567-88

•

Protein

A2APX9

Organism:	Mus musculus/domesticus
Length:	500
Fragment?:	true

•

Publication

29046322 | J:248369

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

19763161 | J:154118

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

A2APX8

Organism:	Mus musculus/domesticus
Length:	2009
Fragment?:	false

•

Publication

6209577 | -

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

•

Publication

1317577 | -

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

•

Publication

21947499 | -

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

•

Publication

27143702 | -

First Author:	Kaplan DI
Year:	2016
Journal:	Cold Spring Harb Perspect Med
Title:	Role of Sodium Channels in Epilepsy.
Volume:	6
Issue:	6

•

Publication

1323284 | -

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

•

Publication

15489334 | -

First Author:	Gerhard DS
Year:	2004
Journal:	Genome Res
Title:	The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Volume:	14
Issue:	10B
Pages:	2121-7

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