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SCN1A Gene

protein-coding GIFtS: 65

GC02M166553

sodium channel, voltage-gated, type I, alpha subunit
(Previous name: febrile convulsions 3 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: SCN1, FEB3)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
FEB3 ^², ⁵
GEFSP2 ^¹, ², ⁵
HBSCI ^¹, ²
NAC1 ^¹, ², ³
Nav1.1 ^¹, ²
SCN1 ^², ³
SMEI ^¹, ², ⁵

Descriptions
Sodium channel protein type I subunit alpha ^³
Sodium channel protein, brain I subunit alpha ^³
Voltage-gated sodium channel subunit alpha Nav1.1 ^³
febrile convulsions 3 ^¹
sodium channel protein, brain I alpha subunit ^²
sodium channel, voltage-gated, type I, alpha ^²
sodium channel, voltage-gated, type I, alpha polypeptide ^²
sodium channel, voltage-gated, type I, alpha subunit ^²

External Ids
HGNC: 10585¹
Entrez Gene: 6323²
UniProtKB: P35498³
Ensembl: ENSG00000144285⁷

Search outside databases for aliases for SCN1A gene

Previous GC identifers: GC02M164900 GC02M165387 GC02M166809 GC02M167048 GC02M166671

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for SCN1A:

The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and

propagation of action potentials, mainly in nerve and muscle. Voltage-sensitive sodium channels

are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit,

and two smaller auxiliary beta subunits. This gene encodes the large alpha subunit, and mutations

in this gene have been associated with several epilepsy, convulsion and migraine disorders.

UniProtKB/Swiss-Prot: SCN1A_HUMAN, P35498

Function: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming

opened or closed conformations in response to the voltage difference across the membrane, the

protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with

their electrochemical gradient

Gene Wiki entry for SCN1A (Nav1.1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the SCN1A gene

Entrez Gene cytogenetic band: 2q24.3 Ensembl cytogenetic band: 2q24.3 HGNC cytogenetic band: 2q24.3

SCN1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M166553: (about GC identifiers)

Start:	166,553,916 bp from pter
End:	166,638,395 bp from pter
Size:	84,480 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000002.10 NT_005403.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: SCN1A_HUMAN, P35498 (See protein sequence)

Recommended Name: Sodium channel protein type 1 subunit alpha

Size: 2009 amino acids; 228972 Da

Subunit: The sodium channel consists of a large polypeptide and 2-3 smaller ones. This sequence

represents a large polypeptide

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: Q16172 Q585T7 Q96LA3 Q9C008

Alternative splicing: 2 isoforms: P35498-1 P35498-2

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_008851.3

ENSEMBL proteins:

ENSP00000364554 ENSP00000303540 ENSP00000386312 ENSP00000364544

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Millipore Purified and/or Recombinant SCN1A Protein
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Scn1a)
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001518	voltage-gated sodium channel complex	IEA	--
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	NAS	--

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Antibodies for SCN1A:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of SCN1A
	Sigma-Aldrich Antibodies for SCN1A
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Scn1a), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for SCN1A

Assays for SCN1A:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P35498

ProtoNet protein and cluster: P35498

4 Blocks protein families:

IPB000048 IQ calmodulin-binding region

IPB000100 Bacterial ribonuclease P protein

IPB001696 Voltage-gated Na+ channel alpha subunit signature

IPB008051 Voltage-gated Na+ channel alpha 1 subunit signature

UniProtKB/Swiss-Prot: SCN1A_HUMAN, P35498

Domain: The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6)

and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are

characterized by a series of positively charged amino acids at every third position

Similarity: Belongs to the sodium channel family

Similarity: Contains 1 IQ domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (SCN1A)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (SCN1A)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006920

Applied Biosystems Silencer® siRNAs for SCN1A

Sigma-Aldrich siRNA and siRNA Panels for SCN1A

Sigma-Aldrich shRNA Panels and shRNA for SCN1A

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Millipore Clones for the Expression of SCN1A

OriGene GFP tagged cDNA clone in CMV expression vector: NM_006920
Myc/DDK tagged cDNA clone in CMV expression vector: NM_006920
untagged cDNA clones in CMV expression vector (see all 2): NM_006920

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_006920

UniProtKB/Swiss-Prot: SCN1A_HUMAN, P35498

Function: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming

opened or closed conformations in response to the voltage difference across the membrane, the

protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with

their electrochemical gradient

Genatlas biochemistry entry for SCN1A:

sodium voltage-gated channel,type I,alpha polypeptide,expressed in brain

8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Scn1a):

behavior/neurological	growth/size	hearing/vestibular/ear	homeostasis/metabolism	lethality-postnatal
life span-post-weaning/aging	nervous system	reproductive system

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005244	voltage-gated ion channel activity	IEA	--
GO:0005248	voltage-gated sodium channel activity	NAS	10742094
GO:0031402	sodium ion binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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5/14 Interacting proteins for SCN1A (ENSP00000303540³) via UniProtKB, MINT, and/or STRING (see all 14 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SCN1B	ENSP00000262631³	STRING (score=.965)
GABRG2	ENSP00000349000³	STRING (score=.959)
SCN2B	ENSP00000278947³	STRING (score=.916)
NAV1	ENSP00000356270³	STRING (score=.889)
ATP1A2	ENSP00000354490³	STRING (score=.883)

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2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006811	ion transport	IEA	--
GO:0006814	sodium ion transport	NAS	10742094

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for SCN1A

Browse Small Molecules at Sigma-Aldrich

Compounds for SCN1A available from Tocris Bioscience

Compound	Action	CAS number
Vinpocetine	Na+ channel blocker	[42971-09-5]
Co 102862	State-dependent Na+ channel blocker; anticonvulsant	[181144-66-1]
QX 314 chloride	Na+ channel blocker	[5369-03-9]
Flecainide acetate	Cardiac Na+ channel blocker. Antiarrhythmic	[54143-56-5]
Tetrodotoxin citrate	Citrate salt of Cat. No. 1078	[18660-81-6]

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2 Novoseek chemical compound relationships for SCN1A gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
sodium	78.48	76	17054685 (3), 12566275 (2), 14672992 (2), 17544618 (2) (see all 58)
potassium	13.17	2	11579435 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (SCN1A)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (SCN1A)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006920

Sigma-Aldrich siRNA and siRNA Panels for SCN1A

Sigma-Aldrich shRNA Panels and shRNA for SCN1A

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_006920

REFSEQ mRNAs for SCN1A gene:

NM_006920.4

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_006920

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_006920
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_006920
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_006920

Additional cDNA sequence:

AB093548.1 AB093549.1 AB098335.1 AK094487.1 AK293759.1 AK294900.1 AY043484.1 DQ993523.1

M91803.1 X65362.1

4 DOTS entries:

DT.211707 DT.100012777 DT.97774887 DT.100735345

24/32 AceView cDNA sequences (see all 32 ):

AB093548 BX116162 BM718214 F03961 AB098335 AA297746 AB093549 AL533359

M91803 X65362 BX507999 F04010 AY043484 AL707423 AL565167 AK094487

F07763 AF225985 NM_006920 BX477644 BX432053 F07703 BI667397 BI032903

highest scoring ESTs for SCN1A:

AB093548 AB093549 AB098335 AY043484 AA297746 AF225985 AK094487 AL565167 BX116162 BX477644

Unigene Cluster for SCN1A:

Sodium channel, voltage-gated, type I, alpha subunit

Hs.22654 [show with all ESTs]

Unigene Representative Sequence: NM_006920

GeneLoc Exon Structure

4 Ensembl transcripts including schematic representations:

ENST00000375405 ENST00000303395 ENST00000409050 ENST00000375395

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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SCN1A expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for SCN1A

¹ / ² / ³

4 probe-sets matching SCN1A gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
52514_at²^{, 3}	U95-B	1	0.75	1.00	1.00	1.00	R45971	0.40	1.00	0.76	1
210383_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF225985	0.60	1.00	0.82	1
1555246_a_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
210383_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks SCN1A for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CTGGAAAATG

SOURCE GeneReport for Unigene cluster: Hs.22654

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for SCN1A gene from 5/7 species (see all 7 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	SCN1A¹	--	sodium channel, voltage-gated, type I, alpha subunit	94.06(n) 98.55(a)	478775 XM_535941.2 XP_535941.2
chimpanzee (Pan troglodytes)	SCN1A¹	--	sodium channel, voltage-gated, type I, alpha subunit	99.57(n) 99.9(a)	459703 XM_515872.2 XP_515872.2
cow (Bos taurus)	SCN1A¹	--	sodium channel, voltage-gated, type I, alpha subunit	93.63(n) 98.25(a)	529590 XM_001252667.1 XP_001252668.1
rat (Rattus norvegicus)	Scn1a¹	--	sodium channel, voltage-gated, type I, alpha	89.91(n) 98.15(a)	81574 NM_030875.1 NP_110502.1
mouse (Mus musculus)	Scn1a^{1, 5}	2 (36.00 cM)⁵	sodium channel, voltage-gated, type I, alpha^{1, 5}	90.44(n)¹ 98.15(a)¹	20265¹ NM_018733.2¹ NP_061203.2¹ AJ810515⁵ AK046001⁵ (see all 13)

About this table Species with no ortholog for SCN1A

ENSEMBL Gene Tree for SCN1A

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for SCN1A gene

SCN2A² SCN9A² SCN3A²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/566 NCBI SNPs in SCN1A are shown (see all 566 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 262)

AB	SNP ID	Valid	Chr 2 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs2298771^1,2	A,C,F,H,O	166601034(-)	`ATACAA/GCAGAA`	1	A/T	mis¹ ese³		12	NA EU EA WA	1044
	rs1813502^1,2	A,C,F,H	166554262(+)	`TTAGTA/GCAGGT`	1	--	ut3¹		1	WA	120
	rs6722462^1,2	A,C,F,H	166639772(+)	`GGTTGC/TCTGTA`	1	--	ng3¹		16	EA NA EU WA	1416
	rs6753086^1,2	A,C,F,H	166638709(+)	`AATTAA/CCACTA`	1	--	ng3¹		4	EU EA WA	420
	rs7577411^1,2	C,F,H	166554040(+)	`TTAAGG/AAAAAG`	1	--	ut3¹ trp³		11	EU EA WA NA	980
	rs4667859^1,2	C,F,H	166555280(+)	`ACAAAC/TAATCT`	1	--	ut3¹		4	EU EA WA	420
	rs6735544^1,2	C,F,H	166639572(+)	`GGCATA/GATTAT`	1	--	ng3¹		4	EU EA WA	420
	rs10497275^1,2	C,F,H	166554976(+)	`AGGTCA/GTTATT`	1	--	ut3¹		21	NS EU EA WA NA	1580
	rs7591522^1,2	A,F,H	166554308(+)	`TCCAAT/CTGCAA`	1	--	ut3¹		4	EU EA WA	418
	rs16851332^1,2	C,F,H	166553549(+)	`ACATGG/ACAATT`	1	--	ng5¹		11	NA EU EA WA	980

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HapMap Linkage Disequilibrium images for SCN1A (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 182389

UniProtKB/Swiss-Prot: SCN1A_HUMAN, P35498

Defects in SCN1A are the cause of generalized epilepsy with febrile seizures plus type 2

(GEFS+2) [MIM:604233]. Generalized epilepsy with febrile seizures-plus refers to a rare autosomal

dominant, familial condition with incomplete penetrance and large intrafamilial variability.

Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety

of afebrile seizure types. GEFS+ is a disease combining febrile seizures, generalized seizures

often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree

of severity

Defects in SCN1A are a cause of severe myoclonic epilepsy in infancy (SMEI) [MIM:607208];

also called Dravet syndrome. SMEI is a rare disorder characterized by generalized tonic, clonic,

and tonic-clonic seizures that are initially induced by fever and begin during the first year of

life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple

and complex partial seizures. Psychomotor development delay is observed around the second year of

life. SMEI is considered to be the most severe phenotype within the spectrum of generalized

epilepsies with febrile seizures-plus

Defects in SCN1A are a cause of intractable childhood epilepsy with generalized

tonic-clonic seizures (ICEGTC) [MIM:607208]. ICEGTC is a disorder characterized by generalized

tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated

with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except

for the absence of myoclonic seizures

Defects in SCN1A are the cause of familial hemiplegic migraine type 3 (FHM3) [MIM:609634].

FHM3 is an autosomal dominant severe subtype of migraine with aura characterized by some degree of

hemiparesis during the attacks. The episodes are associated with variable features of nausea,

vomiting, photophobia, and phonophobia. Age at onset ranges from 6 to 15 years. FHM is

occasionally associated with other neurologic symptoms such as cerebellar ataxia or epileptic

seizures. A unique eye phenotype of elicited repetitive daily blindness has also been reported to

be cosegregating with FHM in a single Swiss family

Defects in SCN1A are the cause of familial febrile convulsions type 3 (FEB3) [MIM:604403];

also known as familial febrile seizures 3. Febrile convulsions are seizures associated with

febrile episodes in childhood without any evidence of intracranial infection or defined pathologic

or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years.

The majority are simple febrile seizures (generally defined as generalized onset, single seizures

with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal

onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The

likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile

seizures are associated with a moderately increased incidence of epilepsy

10/18 Novoseek disease relationships for SCN1A gene (see all 18 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
dravet syndrome	97.81	18	19087113 (2), 18076640 (2), 19203856 (2), 17621480 (1) (see all 11)
epilepsies myoclonic	96.58	52	16458823 (3), 17030758 (3), 12821740 (2), 17054685 (2) (see all 36)
epilepsy generalized	95.03	33	11254445 (2), 14738422 (2), 19339291 (2), 11579434 (1) (see all 28)
seizures febrile	94.79	58	19292758 (4), 11254445 (3), 12742596 (2), 15087100 (2) (see all 40)
hemiplegic migraine familial	89.97	8	19332696 (2), 18357670 (1), 18451712 (1), 19372756 (1) (see all 7)
myoclonic seizure	83.58	1	17507202 (1)
epilepsy	81.56	68	17561957 (3), 18413471 (3), 17507202 (3), 19220312 (3) (see all 39)
familial benign neonatal convulsions	78.38	2	17181426 (1), 11579435 (1)
myoclonic astatic epilepsy	78.05	2	15944908 (2)
seizure febrile simple	77.23	2	17565594 (1), 16326807 (1)

About this table

GeneTests: SCN1A

Familial Hemiplegic Migraine

Human Gene Mutation Database: SCN1A
Genetic Association Database: SCN1A
Human Genome Epidemiology Navigator: SCN1A (19 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

Study Finds Genetic Testing may Help People with Severe Type of Migraine

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/167 PubMed articles for SCN1A gene (see all 167 ):

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. (PubMed id 12821740)^{1, 3, 4, 6} Nabbout R....Zara F. (2003)
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus -- and prevalence of variants in patients with epilepsy. (PubMed id 11254445)^{1, 3, 4, 6} Escayg A.... Meisler M.H. (2001)
Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24. (PubMed id 8062593)^{1, 2, 3, 4} Malo M.S.... Ingram V.M. (1994)
Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). (PubMed id 14738421)^{1, 3, 4, 6} Fukuma G.... Hirose S. (2004)
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. (PubMed id 18413471)^{1, 3, 4} Zucca C.... Bassi M.T. (2008)
Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. (PubMed id 19332696)^{1, 3, 4} Vahedi K....Bousser M.G. (2009)
The lack of association between febrile convulsions and polymorphisms in SCN1A. (PubMed id 12742596)^{1, 3, 6} Chou I.C....Tsai C.H. (2003)
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. (PubMed id 12754708)^{1, 3, 4} Claes L.... De Jonghe P. (2003)
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic- clonic seizures. (PubMed id 12566275)^{1, 3, 4} Fujiwara T....Inoue Y. (2003)
Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. (PubMed id 11823106)^{1, 2, 3} Ito M....Kaneko S. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 6323	HGNC: 10585	AceView: SCN1A	Ensembl:ENSG00000144285	euGenes: HUgn6323
ECgene: SCN1A	H-InvDB: SCN1A

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
GeneReviews	http://www.genetests.org/query?gene=SCN1A

Licensable Technologies for SCN1A
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for SCN1A:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for SCN1A-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for SCN1A		Antibodies for SCN1A
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for SCN1A		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Search for Recombinant Proteins
	Search for Antibodies
	Chimera RNAi (SCN1A)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (Scn1a)
	Antibodies (Scn1a)

Search OriGene for SCN1A

Tocris compounds for SCN1A

	Drugs for SCN1A
	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Search Novus for antibodies for SCN1A

GeneCards Homepage - Last full update: 1 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
SCN1A Gene at Home site.
Version 2.41.1
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SCN1A Gene

protein-coding GIFtS: 65

Aliases &
Descriptions
for SCN1A

Summaries
for SCN1A

Genomic Location
for SCN1A

Proteins
for SCN1A

Protein Domains/
Families
for SCN1A

Gene Function
for SCN1A

Pathways & Interactions
for SCN1A

Drugs & Compounds
for SCN1A

Transcripts
for SCN1A

Expression
for SCN1A

Orthologs
for SCN1A

Paralogs
for SCN1A

SNPs/Variants
for SCN1A

Disorders & Mutations
for SCN1A

Medical News
for SCN1A

Publications
for SCN1A

Search for SCN1A

Genome Databases showing SCN1A

Other Databases showing SCN1A

Specialized Databases showing SCN1A

Licensable Technologies
for SCN1A

Services
for SCN1A

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

SCN1A Gene

protein-coding GIFtS: 65

Aliases & Descriptionsfor SCN1A

Summariesfor SCN1A

Genomic Locationfor SCN1A

Proteinsfor SCN1A

Protein Domains/Familiesfor SCN1A

Gene Functionfor SCN1A

Pathways & Interactionsfor SCN1A

Drugs & Compoundsfor SCN1A

Transcriptsfor SCN1A

Expression for SCN1A

Orthologsfor SCN1A

Paralogsfor SCN1A

SNPs/Variantsfor SCN1A

Disorders & Mutationsfor SCN1A

Medical Newsfor SCN1A

Publicationsfor SCN1A

Search for SCN1A

Genome Databases showing SCN1A

Other Databases showing SCN1A

Specialized Databases showing SCN1A

Licensable Technologiesfor SCN1A

Servicesfor SCN1A

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for SCN1A

Summaries
for SCN1A

Genomic Location
for SCN1A

Proteins
for SCN1A

Protein Domains/
Families
for SCN1A

Gene Function
for SCN1A

Pathways & Interactions
for SCN1A

Drugs & Compounds
for SCN1A

Transcripts
for SCN1A

Expression
for SCN1A

Orthologs
for SCN1A

Paralogs
for SCN1A

SNPs/Variants
for SCN1A

Disorders & Mutations
for SCN1A

Medical News
for SCN1A

Publications
for SCN1A

Licensable Technologies
for SCN1A

Services
for SCN1A