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Aliases for SCN1B Gene

Aliases for SCN1B Gene

  • Sodium Voltage-Gated Channel Beta Subunit 1 2 3 5
  • Sodium Channel, Voltage Gated, Type I Beta Subunit 2 3
  • Sodium Channel, Voltage-Gated, Type I, Beta 2 3
  • Sodium Channel, Voltage-Gated, Type I, Beta Polypeptide 2
  • Sodium Channel, Voltage-Gated, Type I, Beta Subunit 2
  • Sodium Channel Subunit Beta-1 3
  • ATFB13 3
  • BRGDA5 3
  • EIEE52 3
  • GEFSP1 3

External Ids for SCN1B Gene

Previous GeneCards Identifiers for SCN1B Gene

  • GC19P036139
  • GC19P035970
  • GC19P040197
  • GC19P040213
  • GC19P035521
  • GC19P032031

Summaries for SCN1B Gene

Entrez Gene Summary for SCN1B Gene

  • Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

GeneCards Summary for SCN1B Gene

SCN1B (Sodium Voltage-Gated Channel Beta Subunit 1) is a Protein Coding gene. Diseases associated with SCN1B include Epileptic Encephalopathy, Early Infantile, 52 and Atrial Fibrillation, Familial, 13. Among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and G-Beta Gamma Signaling. GO annotations related to this gene include sodium channel regulator activity and sodium channel inhibitor activity. An important paralog of this gene is SCN3B.

UniProtKB/Swiss-Prot for SCN1B Gene

  • Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its association with neurofascin may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons.

  • Isoform 2: Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth.

Tocris Summary for SCN1B Gene

  • Voltage-gated sodium channels (NaV) are responsible for action potential initiation and propagation in excitable cells, including nerve, muscle, and neuroendocrine cell types. They are also expressed at low levels in non-excitable cells, where their physiological role is unclear.

Gene Wiki entry for SCN1B Gene

Additional gene information for SCN1B Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCN1B Gene

Genomics for SCN1B Gene

Regulatory Elements for SCN1B Gene

Enhancers for SCN1B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H034972 2 FANTOM5 Ensembl ENCODE dbSUPER 39.6 -56.4 -56405 2 HDGF PKNOX1 ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF302 ZNF416 ZNF207 TMEM147-AS1 LSM14A PROSER3 ZNF599 ENSG00000267049 HAUS5 KIAA0355 ZNF181 KMT2B ZNF30
GH19H034994 2.1 FANTOM5 Ensembl ENCODE dbSUPER 15.7 -29.5 -29535 13 MLX YBX1 DMAP1 YY1 SLC30A9 ZNF416 ZNF548 SP3 ZC3H11A NFYC TMEM147-AS1 ZNF599 LSM14A HAUS5 KMT2B ZNF792 ZNF302 KIAA0355 PROSER3 RBM42
GH19H034984 1.1 Ensembl ENCODE dbSUPER 19.7 -44.9 -44856 1 STAT1 PRDM10 FOXP2 ZNF248 NR2F2 ZNF785 YY1 ZNF30 SCN1B ZNF302 ZNF181 HPN ENSG00000179066 HPN-AS1 FXYD3 LRFN3 ENSG00000267219
GH19H035066 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.6 +37.6 37573 3 HDGF ATF1 ARID4B FEZF1 ZNF2 YY1 ZNF143 ZNF207 KLF7 ATF7 LSM14A RBM42 HPN TMEM147-AS1 SCN1B ENSG00000267049 KMT2B HAUS5 ZBTB32 PROSER3
GH19H035208 2 FANTOM5 Ensembl ENCODE dbSUPER 10.1 +182.0 181959 7 PKNOX1 FOXA2 FEZF1 ZNF2 SP3 SP5 JUNB ZNF592 MEF2D SREBF1 ZNF599 TMEM147-AS1 KIAA0355 HAUS5 PROSER3 RBM42 MAG ZNF792 SDHAF1 USF2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SCN1B on UCSC Golden Path with GeneCards custom track

Promoters for SCN1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000108936 334 1201 ZNF133 ZNF2 ZBTB7B GLIS2 FOS KLF7 ZNF548 ZNF202 SP3 SMARCA4

Genomic Location for SCN1B Gene

Chromosome:
19
Start:
35,030,466 bp from pter
End:
35,040,449 bp from pter
Size:
9,984 bases
Orientation:
Plus strand

Genomic View for SCN1B Gene

Genes around SCN1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCN1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCN1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCN1B Gene

Proteins for SCN1B Gene

  • Protein details for SCN1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07699-SCN1B_HUMAN
    Recommended name:
    Sodium channel subunit beta-1
    Protein Accession:
    Q07699
    Secondary Accessions:
    • Q5TZZ4
    • Q6TN97

    Protein attributes for SCN1B Gene

    Size:
    218 amino acids
    Molecular mass:
    24707 Da
    Quaternary structure:
    • The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more beta-1, beta-2 and beta-3. Beta-1 and beta-3 are non-covalently associated with alpha, while beta-2 is covalently linked by disulfide bonds. Beta-1 or beta-3 subunits associate with neurofascin. Associates with SCN10A (By similarity). Interacts with SCN1A (PubMed:15525788, PubMed:17928445). Interacts with SCN8A (PubMed:26900580).

    Alternative splice isoforms for SCN1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCN1B Gene

Post-translational modifications for SCN1B Gene

  • Glycosylation at Asn93, Asn110, isoforms=2114, and isoforms=2135
  • Modification sites at PhosphoSitePlus

Other Protein References for SCN1B Gene

No data available for DME Specific Peptides for SCN1B Gene

Domains & Families for SCN1B Gene

Gene Families for SCN1B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for SCN1B Gene

Graphical View of Domain Structure for InterPro Entry

Q07699

UniProtKB/Swiss-Prot:

SCN1B_HUMAN :
  • Belongs to the sodium channel auxiliary subunit SCN1B (TC 8.A.17) family.
Family:
  • Belongs to the sodium channel auxiliary subunit SCN1B (TC 8.A.17) family.
genes like me logo Genes that share domains with SCN1B: view

Function for SCN1B Gene

Molecular function for SCN1B Gene

GENATLAS Biochemistry:
sodium voltage-gated channel,type I,beta 1 subunit,expressed in brain,skeletal muscle,heart,required for normal inactivation kinetics of the Na+ channel
UniProtKB/Swiss-Prot Function:
Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its association with neurofascin may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons.
UniProtKB/Swiss-Prot Function:
Isoform 2: Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth.

Phenotypes From GWAS Catalog for SCN1B Gene

Gene Ontology (GO) - Molecular Function for SCN1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005248 voltage-gated sodium channel activity IDA 19808477
GO:0005272 sodium channel activity IEA --
GO:0005515 protein binding IPI 26900580
GO:0017080 sodium channel regulator activity IEA,IDA 18464934
genes like me logo Genes that share ontologies with SCN1B: view
genes like me logo Genes that share phenotypes with SCN1B: view

Human Phenotype Ontology for SCN1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SCN1B Gene

MGI Knock Outs for SCN1B:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SCN1B
  • Applied Biological Materials Clones for SCN1B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SCN1B Gene

Localization for SCN1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCN1B Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SCN1B gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SCN1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001518 voltage-gated sodium channel complex IDA 19808477
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0014704 intercalated disc IEA,ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SCN1B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SCN1B Gene

Pathways & Interactions for SCN1B Gene

genes like me logo Genes that share pathways with SCN1B: view

Pathways by source for SCN1B Gene

Gene Ontology (GO) - Biological Process for SCN1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002028 regulation of sodium ion transport IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with SCN1B: view

No data available for SIGNOR curated interactions for SCN1B Gene

Drugs & Compounds for SCN1B Gene

(10) Drugs for SCN1B Gene - From: DrugBank, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zonisamide Approved, Investigational Pharma blocker, Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 68
Brivaracetam Approved, Investigational Pharma Target, inhibitor ligand for SV2A, selective and high-affinity 0
Phenytoin Approved, Vet_approved Pharma Pore Blocker, Target 79
Valproic Acid Approved, Investigational Pharma Target HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 331
Tetrodotoxin Investigational Pharma Channel blocker Na+ channel blocker 4

(2) Additional Compounds for SCN1B Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
Tetrodotoxin citrate
18660-81-6

(5) Tocris Compounds for SCN1B Gene

Compound Action Cas Number
QX 314 bromide Na+ channel blocker 24003-58-5
QX 314 chloride Na+ channel blocker 5369-03-9
Tetrodotoxin Na+ channel blocker 4368-28-9
Tetrodotoxin citrate Na+ channel blocker; citrate salt of tetrodotoxin (Cat. No. 1078) 18660-81-6
Veratridine Voltage-gated Na+ channel opener 71-62-5
genes like me logo Genes that share compounds with SCN1B: view

Transcripts for SCN1B Gene

Unigene Clusters for SCN1B Gene

Sodium channel, voltage-gated, type I, beta subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SCN1B
  • Applied Biological Materials Clones for SCN1B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SCN1B Gene

No ASD Table

Relevant External Links for SCN1B Gene

GeneLoc Exon Structure for
SCN1B
ECgene alternative splicing isoforms for
SCN1B

Expression for SCN1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SCN1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCN1B Gene

This gene is overexpressed in Muscle - Skeletal (x11.1), Brain - Cerebellum (x4.5), Brain - Cerebellar Hemisphere (x4.4), Brain - Cortex (x4.3), and Brain - Frontal Cortex (BA9) (x4.2).

Protein differential expression in normal tissues from HIPED for SCN1B Gene

This gene is overexpressed in Heart (42.1) and Frontal cortex (26.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SCN1B Gene



Protein tissue co-expression partners for SCN1B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SCN1B Gene:

SCN1B

SOURCE GeneReport for Unigene cluster for SCN1B Gene:

Hs.436646

mRNA Expression by UniProt/SwissProt for SCN1B Gene:

Q07699-SCN1B_HUMAN
Tissue specificity: The overall expression of isoforms 1 and 2 is very similar. Isoform 1 is abundantly expressed in skeletal muscle, heart and brain. Isoform 2 is highly expressed in brain and skeletal muscle and present at a very low level in heart, placenta, lung, liver, kidney and pancreas. In brain, isoform 2 is most abundant in the cerebellum, followed by the cerebral cortex and occipital lobe, while isoform 1 levels are higher in the cortex compared to the cerebellum. Isoform 2 is expressed in many regions of the brain, including cerebellar Purkinje cells, cortex pyramidal neurons and many of the neuronal fibers throughout the brain (at protein level). Also detected in dorsal root ganglion, in fibers of the spinal nerve and in cortical neurons and their processes (at protein level).

Evidence on tissue expression from TISSUES for SCN1B Gene

  • Muscle(4.7)
  • Nervous system(4.6)
  • Heart(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SCN1B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
Thorax:
  • heart
  • heart valve
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with SCN1B: view

Primer Products

Orthologs for SCN1B Gene

This gene was present in the common ancestor of chordates.

Orthologs for SCN1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCN1B 33 34
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia SCN1B 33 34
  • 94.04 (n)
cow
(Bos Taurus)
Mammalia SCN1B 33 34
  • 93.27 (n)
rat
(Rattus norvegicus)
Mammalia Scn1b 33
  • 89.91 (n)
mouse
(Mus musculus)
Mammalia Scn1b 33 16 34
  • 89.14 (n)
oppossum
(Monodelphis domestica)
Mammalia SCN1B 34
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCN1B 34
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scn1b 33
  • 64.54 (n)
zebrafish
(Danio rerio)
Actinopterygii scn1ba 33 34
  • 60.97 (n)
scn1bb 34
  • 32 (a)
OneToMany
SCN1B (2 of 3) 34
  • 27 (a)
OneToMany
Species where no ortholog for SCN1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SCN1B Gene

ENSEMBL:
Gene Tree for SCN1B (if available)
TreeFam:
Gene Tree for SCN1B (if available)

Paralogs for SCN1B Gene

Paralogs for SCN1B Gene

(1) SIMAP similar genes for SCN1B Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SCN1B: view

Variants for SCN1B Gene

Sequence variations from dbSNP and Humsavar for SCN1B Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs104894718 Pathogenic, Generalized epilepsy with febrile seizures plus 1 (GEFS+1) [MIM:604233] 35,033,654(+) GAGTG(C/G/T)CACGT reference, missense
rs16969925 Pathogenic, Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377] 35,033,545(+) TGAGC(A/G)CTTCG reference, missense
rs72550247 Pathogenic, Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377] 35,039,125(+) ACAGA(A/G)ACATG upstream-variant-2KB, reference, missense
VAR_067341 Generalized epilepsy with febrile seizures plus 1 (GEFS+1) [MIM:604233]
VAR_078019 Epileptic encephalopathy, early infantile, 52 (EIEE52) [MIM:617350]

Variation tolerance for SCN1B Gene

Residual Variation Intolerance Score: 24.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.46; 77.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCN1B Gene

Human Gene Mutation Database (HGMD)
SCN1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCN1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SCN1B Gene

Disorders for SCN1B Gene

MalaCards: The human disease database

(27) MalaCards diseases for SCN1B Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SCN1B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SCN1B_HUMAN
  • Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269 PubMed:19808477}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Brugada syndrome 5 (BRGDA5) [MIM:612838]: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269 PubMed:18464934}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epileptic encephalopathy, early infantile, 52 (EIEE52) [MIM:617350]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE52 inheritance is autosomal recessive. {ECO:0000269 PubMed:19710327, ECO:0000269 PubMed:23148524}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Generalized epilepsy with febrile seizures plus 1 (GEFS+1) [MIM:604233]: 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. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO:0000269 PubMed:17928445, ECO:0000269 PubMed:21040232, ECO:0000269 PubMed:9697698}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SCN1B

Genetic Association Database (GAD)
SCN1B
Human Genome Epidemiology (HuGE) Navigator
SCN1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCN1B
genes like me logo Genes that share disorders with SCN1B: view

No data available for Genatlas for SCN1B Gene

Publications for SCN1B Gene

  1. Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. (PMID: 19522081) Orrico A … Sorrentino V (Clinical genetics 2009) 3 4 22 45 60
  2. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. (PMID: 9697698) Wallace RH … Mulley JC (Nature genetics 1998) 3 4 22 45 60
  3. The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain. (PMID: 8394762) McClatchey AI … Gusella JF (Human molecular genetics 1993) 2 3 4 22 60
  4. A novel microsatellite polymorphism of sodium channel beta1-subunit gene (SCN1B) may underlie abnormal cardiac excitation manifested by coved-type ST-elevation compatible with Brugada syndrome in Japanese. (PMID: 20137763) Ogawa R … Echizen H (International journal of clinical pharmacology and therapeutics 2010) 3 22 45 60
  5. Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. (PMID: 19808477) Watanabe H … Roden DM (Circulation. Arrhythmia and electrophysiology 2009) 3 4 45 60

Products for SCN1B Gene

  • Addgene plasmids for SCN1B

Sources for SCN1B Gene

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