Identity
HGNC
LOCATION
12q13.13
LOCUSID
ALIAS
BFIS5,CERIII,CIAT,DEE13,EIEE13,MED,MYOCL2,NaCh6,Nav1.6,PN4
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6334
MIM: 600702
HGNC: 10596
Ensembl: ENSG00000196876
Variants:
dbSNP: 6334
ClinVar: 6334
TCGA: ENSG00000196876
COSMIC: SCN8A
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38233770 | 2024 | Expanding the genotype-phenotype spectrum in SCN8A-related disorders. | 0 |
| 38289338 | 2024 | Coupling of Slack and Na(V)1.6 sensitizes Slack to quinidine blockade and guides anti-seizure strategy development. | 0 |
| 38311555 | 2024 | [Clinical features and genetic analysis of five children with epilepsies due to variants of SCN8A gene]. | 0 |
| 38233770 | 2024 | Expanding the genotype-phenotype spectrum in SCN8A-related disorders. | 0 |
| 38289338 | 2024 | Coupling of Slack and Na(V)1.6 sensitizes Slack to quinidine blockade and guides anti-seizure strategy development. | 0 |
| 38311555 | 2024 | [Clinical features and genetic analysis of five children with epilepsies due to variants of SCN8A gene]. | 0 |
| 37585367 | 2023 | Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A-related epilepsy. | 1 |
| 37585367 | 2023 | Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A-related epilepsy. | 1 |
| 34431999 | 2022 | Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. | 39 |
| 35348308 | 2022 | Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review. | 2 |
| 35753135 | 2022 | Nav1.6 promotes the progression of human follicular thyroid carcinoma cells via JAK-STAT signaling pathway. | 6 |
| 34431999 | 2022 | Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. | 39 |
| 35348308 | 2022 | Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review. | 2 |
| 35753135 | 2022 | Nav1.6 promotes the progression of human follicular thyroid carcinoma cells via JAK-STAT signaling pathway. | 6 |
| 33428824 | 2021 | Gain-of-function mutation Met136Val in SCN8A may not be a common cause of trigeminal neuralgia. | 1 |
Citation
Dessen P
SCN8A (sodium voltage-gated channel alpha subunit 8)
Atlas Genet Cytogenet Oncol Haematol. 2009-05-01
Online version: http://atlasgeneticsoncology.org/gene/50930/scn8a
