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Aliases for SCN8A Gene

Aliases for SCN8A Gene

  • Sodium Voltage-Gated Channel Alpha Subunit 8 2 3 5
  • Sodium Channel, Voltage Gated, Type VIII, Alpha Subunit 2 3
  • Voltage-Gated Sodium Channel Subunit Alpha Nav1.6 3 4
  • MED 3 4
  • Sodium Channel, Voltage Gated, Type VIII, Alpha Polypeptide 2
  • Sodium Channel, Voltage Gated, Type VIII Alpha Subunit 2
  • Voltage-Gated Sodium Channel Type VIII Alpha Protein 3
  • Sodium Channel Protein Type VIII Subunit Alpha 4
  • Sodium Channel Protein Type 8 Subunit Alpha 3
  • HNa6/Scn8a Voltage-Gated Sodium Channel 3
  • CERIII 3
  • EIEE13 3
  • Nav1.6 3
  • BFIS5 3
  • NaCh6 3
  • CIAT 3
  • PN4 3

External Ids for SCN8A Gene

Previous HGNC Symbols for SCN8A Gene

  • MED

Previous GeneCards Identifiers for SCN8A Gene

  • GC12M052742
  • GC12P052007
  • GC12P051701
  • GC12P050271
  • GC12P049089
  • GC12P051987

Summaries for SCN8A Gene

Entrez Gene Summary for SCN8A Gene

  • This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

CIViC summary for SCN8A Gene

GeneCards Summary for SCN8A Gene

SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8) is a Protein Coding gene. Diseases associated with SCN8A include Epileptic Encephalopathy, Early Infantile, 13 and Seizures, Benign Familial Infantile, 5. Among its related pathways are G-Beta Gamma Signaling and Activation of cAMP-Dependent PKA. GO annotations related to this gene include ion channel activity and voltage-gated sodium channel activity. An important paralog of this gene is SCN2A.

UniProtKB/Swiss-Prot for SCN8A Gene

  • 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. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation.

Tocris Summary for SCN8A 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 SCN8A Gene

Additional gene information for SCN8A Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCN8A Gene

Genomics for SCN8A Gene

Regulatory Elements for SCN8A Gene

Enhancers for SCN8A 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
GH12H051590 1.2 Ensembl ENCODE 14.3 +1.7 1676 2 SIN3A ZNF2 YY1 ZNF121 ZNF766 GLIS2 ZNF143 ATF7 REST ZNF518A SCN8A PIR42272
GH12H051751 0.8 Ensembl ENCODE 11.3 +162.0 161951 1 PKNOX1 DDX20 SP2 CREB1 FOS HNRNPA3P10 SCN8A ANKRD33 GALNT6 SLC4A8 GC12P051765
GH12H051398 1.1 FANTOM5 Ensembl ENCODE 7.8 -189.9 -189931 4 TCF12 ZNF121 GLIS1 HLF CEBPB PRDM10 EGR2 GALNT6 HIGD1C SCN8A SLC4A8 METTL7A ENSG00000271065
GH12H051441 0.9 FANTOM5 ENCODE 4 -148.0 -148005 1 ZFHX2 RFX1 EGR1 ZNF341 FOS NR3C1 ATF2 SP7 SLC4A8 ENSG00000271065 SCN8A POU6F1 PIR56141 GC12P051454
GH12H051186 0.8 ENCODE 4.2 -402.4 -402399 3 HDGF PKNOX1 BATF RELA POLR2A FOXK2 EED ZNF143 PRDM10 ETV6 POU6F1 DAZAP2 LETMD1 CELA1 RNU6-1273P SLC11A2 CSRNP2 SCN8A TFCP2 ENSG00000278126
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SCN8A on UCSC Golden Path with GeneCards custom track

Promoters for SCN8A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000051900 1207 1601 SIN3A ZNF2 YY1 ZNF121 ZNF766 GLIS2 ZNF143 ATF7 REST GLIS1

Genomic Location for SCN8A Gene

Chromosome:
12
Start:
51,590,193 bp from pter
End:
51,812,864 bp from pter
Size:
222,672 bases
Orientation:
Plus strand

Genomic View for SCN8A Gene

Genes around SCN8A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCN8A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCN8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCN8A Gene

Proteins for SCN8A Gene

  • Protein details for SCN8A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQD0-SCN8A_HUMAN
    Recommended name:
    Sodium channel protein type 8 subunit alpha
    Protein Accession:
    Q9UQD0
    Secondary Accessions:
    • B9VWG8
    • O95788
    • Q9NYX2
    • Q9UPB2

    Protein attributes for SCN8A Gene

    Size:
    1980 amino acids
    Molecular mass:
    225280 Da
    Quaternary structure:
    • The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more beta-1 (SCN1B), beta-2 (SCN2B), beta-3 (SCN3B) and/or beta-4 (SCN4B). Beta-1 (SCN1B) and beta-3 (SCN3B) are non-covalently associated with alpha, while beta-2 (SCN2B) and beta-4 (SCN4B) are covalently linked by disulfide bonds. Interacts with NEDD4 and NEDD4L (By similarity). Interacts with FGF13. Interacts with FGF14, GBG3, GBB2 and SCN1B (PubMed:26900580). Interacts with the conotoxin GVIIJ (PubMed:24497506). Interacts with the conotoxin GVIIJ (PubMed:24497506). Interacts with the spider beta/delta-theraphotoxin-Pre1a (PubMed:28428547).

    Alternative splice isoforms for SCN8A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCN8A Gene

Post-translational modifications for SCN8A Gene

  • May be ubiquitinated by NEDD4L; which would promote its endocytosis.
  • Phosphorylation at Ser-1497 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.
  • Glycosylation at isoforms=2, 3, 4, 5215, isoforms=2, 3, 4, 5289, isoforms=2, 3, 4, 5295, isoforms=2, 3, 4, 5308, Asn326, Asn1358, Asn1372, and Asn1383
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SCN8A Gene

Domains & Families for SCN8A Gene

Gene Families for SCN8A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Graphical View of Domain Structure for InterPro Entry

Q9UQD0

UniProtKB/Swiss-Prot:

SCN8A_HUMAN :
  • 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.
  • Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily.
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.
Family:
  • Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily.
genes like me logo Genes that share domains with SCN8A: view

Function for SCN8A Gene

Molecular function for SCN8A Gene

GENATLAS Biochemistry:
sodium voltage-gated channel,type VIII,alpha polypeptide,with two alternative spliced isoforms,expressed in brain and spinal cord,homolog to the Scn8a murine gene,mutated in motor end-plate disease
UniProtKB/Swiss-Prot 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. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation.

Phenotypes From GWAS Catalog for SCN8A Gene

Gene Ontology (GO) - Molecular Function for SCN8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005248 voltage-gated sodium channel activity NAS 9828131
GO:0005272 sodium channel activity IEA --
GO:0005515 protein binding IPI 26900580
genes like me logo Genes that share ontologies with SCN8A: view
genes like me logo Genes that share phenotypes with SCN8A: view

Human Phenotype Ontology for SCN8A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SCN8A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SCN8A Gene

Localization for SCN8A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCN8A Gene

Cell membrane; Multi-pass membrane protein.
Isoform 5: Cytoplasmic vesicle. Note=Some vesicles are localized adjacent to melanoma invadopodia and macrophage podosomes. Does not localize to the plasma membrane.

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 SCN8A gene
Compartment Confidence
plasma membrane 5
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Cell Junctions (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SCN8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001518 voltage-gated sodium channel complex IC 9828131
GO:0005886 plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 9828131
GO:0030018 Z disc ISS --
genes like me logo Genes that share ontologies with SCN8A: view

Pathways & Interactions for SCN8A Gene

genes like me logo Genes that share pathways with SCN8A: view

Pathways by source for SCN8A Gene

Gene Ontology (GO) - Biological Process for SCN8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport NAS 9828131
GO:0007399 nervous system development TAS 9828131
GO:0007422 peripheral nervous system development ISS --
genes like me logo Genes that share ontologies with SCN8A: view

No data available for SIGNOR curated interactions for SCN8A Gene

Drugs & Compounds for SCN8A Gene

(14) Drugs for SCN8A Gene - From: DrugBank, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Brivaracetam Approved, Investigational Pharma Target, inhibitor ligand for SV2A, selective and high-affinity 0
Valproic Acid Approved, Investigational Pharma Target HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 331
Safinamide Approved Pharma inhibitor MAO-B inhibitor 0
Tetrodotoxin Investigational Pharma Channel blocker, blocker, Target Na+ channel blocker 4
Veratridine Pharma Activator Voltage-gated Na+ channel opener 0

(3) Additional Compounds for SCN8A Gene - From: Novoseek, HMDB, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
beta-scorpion toxin Cn2
Activator
Tetrodotoxin citrate
18660-81-6

(5) Tocris Compounds for SCN8A 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 SCN8A: view

Transcripts for SCN8A Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SCN8A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SCN8A Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22a ·
SP1: - - -
SP2: -
SP3: - -
SP4: -
SP5: -

ExUns: 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for SCN8A Gene

GeneLoc Exon Structure for
SCN8A
ECgene alternative splicing isoforms for
SCN8A

Expression for SCN8A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SCN8A Gene

mRNA differential expression in normal tissues according to GTEx for SCN8A Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.8), Brain - Cerebellar Hemisphere (x6.2), Brain - Cerebellum (x4.9), and Brain - Anterior cingulate cortex (BA24) (x4.9).

Protein differential expression in normal tissues from HIPED for SCN8A Gene

This gene is overexpressed in Frontal cortex (44.1), Adipocyte (12.4), and Platelet (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SCN8A Gene



Protein tissue co-expression partners for SCN8A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SCN8A Gene:

SCN8A

SOURCE GeneReport for Unigene cluster for SCN8A Gene:

Hs.436550

mRNA Expression by UniProt/SwissProt for SCN8A Gene:

Q9UQD0-SCN8A_HUMAN
Tissue specificity: Isoform 5 is expressed in non-neuronal tissues, such as monocytes/macrophages.

Evidence on tissue expression from TISSUES for SCN8A Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SCN8A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SCN8A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SCN8A Gene

Orthologs for SCN8A Gene

This gene was present in the common ancestor of animals.

Orthologs for SCN8A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCN8A 33
  • 99.21 (n)
dog
(Canis familiaris)
Mammalia SCN8A 33 34
  • 95.4 (n)
cow
(Bos Taurus)
Mammalia SCN8A 33 34
  • 94.43 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 92 (a)
OneToMany
-- 34
  • 59 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Scn8a 33
  • 90.71 (n)
mouse
(Mus musculus)
Mammalia Scn8a 33 16 34
  • 90.07 (n)
chicken
(Gallus gallus)
Aves SCN8A 33 34
  • 83.86 (n)
lizard
(Anolis carolinensis)
Reptilia SCN8A 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731347 33
  • 77.15 (n)
zebrafish
(Danio rerio)
Actinopterygii scn8aa 34
  • 84 (a)
OneToMany
scn8ab 33 34
  • 75.98 (n)
scn8a 33
fruit fly
(Drosophila melanogaster)
Insecta NaCP60E 35
  • 63 (a)
para 35
  • 45 (a)
Species where no ortholog for SCN8A 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)
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 SCN8A Gene

ENSEMBL:
Gene Tree for SCN8A (if available)
TreeFam:
Gene Tree for SCN8A (if available)

Paralogs for SCN8A Gene

genes like me logo Genes that share paralogs with SCN8A: view

Variants for SCN8A Gene

Sequence variations from dbSNP and Humsavar for SCN8A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs202151337 Pathogenic, Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558] 51,806,788(+) TGGAG(A/G)ACTTC reference, missense
rs397514738 Pathogenic, Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558] 51,786,590(+) ATGTG(C/G)TGCTG reference, missense, utr-variant-3-prime
rs587777721 Pathogenic, Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558] 51,806,336(+) ATTCC(A/G)AGTCA reference, missense
rs587777722 Pathogenic, Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558] 51,789,397(+) GATAA(A/C)TTCAA reference, missense
rs587777723 Pathogenic, Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558] 51,789,396(+) TGATA(A/C)CTTCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SCN8A Gene

Variant ID Type Subtype PubMed ID
esv2020985 CNV deletion 18987734
esv2745886 CNV deletion 23290073
esv2745887 CNV deletion 23290073
esv3629507 OTHER inversion 21293372
esv3629508 CNV gain 21293372
esv3629509 CNV loss 21293372
esv3629510 CNV loss 21293372
nsv706 CNV deletion 18451855
nsv826373 CNV gain 20364138
nsv975488 CNV duplication 23825009
nsv983485 CNV duplication 23825009

Variation tolerance for SCN8A Gene

Residual Variation Intolerance Score: 0.645% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.17; 39.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCN8A Gene

Human Gene Mutation Database (HGMD)
SCN8A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCN8A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCN8A Gene

Disorders for SCN8A Gene

MalaCards: The human disease database

(18) MalaCards diseases for SCN8A Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 13
  • eiee13
seizures, benign familial infantile, 5
  • hyperinsulinemic hypoglycemia, familial, 5
cognitive impairment with or without cerebellar ataxia
  • ciat
scn8a encephalopathy
  • epileptic encephalopathy, early infantile, 13
scn8a-related epilepsy with encephalopathy
  • epileptic encephalopathy, early infantile, 13
- elite association - COSMIC cancer census association via MalaCards
Search SCN8A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SCN8A_HUMAN
  • Cognitive impairment with or without cerebellar ataxia (CIAT) [MIM:614306]: A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes. {ECO:0000269 PubMed:16236810}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]: A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. EIEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy. {ECO:0000269 PubMed:22365152, ECO:0000269 PubMed:23708187, ECO:0000269 PubMed:24352161, ECO:0000269 PubMed:24874546, ECO:0000269 PubMed:24888894, ECO:0000269 PubMed:25239001, ECO:0000269 PubMed:25568300, ECO:0000269 PubMed:25725044, ECO:0000269 PubMed:25785782, ECO:0000269 PubMed:25818041, ECO:0000269 PubMed:26900580, ECO:0000269 PubMed:26993267, ECO:0000269 PubMed:27210545, ECO:0000269 PubMed:27864847}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Seizures, benign familial infantile, 5 (BFIS5) [MIM:617080]: A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS5 inheritance is autosomal dominant. {ECO:0000269 PubMed:26677014, ECO:0000269 PubMed:27210545}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SCN8A

Genetic Association Database (GAD)
SCN8A
Human Genome Epidemiology (HuGE) Navigator
SCN8A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCN8A
genes like me logo Genes that share disorders with SCN8A: view

No data available for Genatlas for SCN8A Gene

Publications for SCN8A Gene

  1. Regulation of podosome formation in macrophages by a splice variant of the sodium channel SCN8A. (PMID: 19136557) Carrithers MD … Waxman SG (The Journal of biological chemistry 2009) 3 4 22 60
  2. Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor. (PMID: 18718804) Sharkey LM … Meisler MH (Parkinsonism & related disorders 2009) 3 22 45 60
  3. Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. (PMID: 9828131) Plummer NW … Meisler MH (Genomics 1998) 2 3 4 60
  4. Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'. (PMID: 7670495) Burgess DL … Meisler MH (Nature genetics 1995) 2 3 22 60
  5. Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. (PMID: 26900580) Wagnon JL … Meisler MH (Annals of clinical and translational neurology 2016) 3 4 60

Products for SCN8A Gene

Sources for SCN8A Gene

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