SCN8A antibody
- Known as:
- SCN8A (anti-)
- Catalog number:
- orb101715
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- SCN8A antibody
Related genes to: SCN8A antibody
- Gene:
- SCN8A NIH gene
- Name:
- sodium voltage-gated channel alpha subunit 8
- Previous symbol:
- MED
- Synonyms:
- Nav1.6, NaCh6, PN4, CerIII, CIAT
- Chromosome:
- 12q13.13
- Locus Type:
- gene with protein product
- Date approved:
- 1995-08-23
- Date modifiied:
- 2017-05-10
Related products to: SCN8A antibody
Related articles to: SCN8A antibody
- Dravet syndrome (DS), a catastrophic developmental and epileptic encephalopathy primarily caused by SCN1A haploinsufficiency, remains largely refractory to current antiseizure medications. In recent years, gene-targeted therapies, including antisense oligonucleotides (ASOs)-and viral-based therapies, have emerged as promising disease-modifying strategies. - Source: PubMed
Publication date: 2026/06/10
Riva AntonellaDi Gioacchino SaraVolpedo GretaRisso BeatriceDe Lillo AntonellaZara FedericoFalace AntonioStriano Pasquale - Pathogenic variants in SCN1A, SCN2A, SCN3A, SCN8A, and SCN1B have been associated with a spectrum of epilepsy and neurodevelopmental disorders. We created a ClinGen Variant Curation Expert Panel and adapted the ACMG/AMP recommendations for sequence variant classification for each of these genes. - Source: PubMed
Publication date: 2026/06/01
Smith LaceyBonkowski EmilyPrentice AnnaCohen StaceyLusk LainaParthasarathy ShridharBurns BrendanButler ElizabethChen YanminDady KathleenDugger SarahIng AlexanderLassiter RhondaLewis-Smith DavidMulhern MaureenNguyen Jimmy N HOlival JonathanSajan Samin AThompson Christopher HGeorge Alfred LWagnon JacyYergert KatieMagielski Jan HMcKee Jillian LRiggs ErinWiltrout KimberlyPoduri AnnapurnaHelbig IngoMefford Heather C - - Source: PubMed
Publication date: 2026/05/26
Caputo DavideBagnasco IreneCanafoglia LauraVisani ElisaRagona FrancescaPanzica FerruccioNardocci NardoFranceschetti SilvanaGranata Tiziana - Voltage-gated sodium channels (VGSCs) are emerging therapeutic targets for cancers including neural tumors such as neuroblastomas and gliomas. BmK IT2, a neurotoxic polypeptide from the scorpion Buthus martensii Karsch, is a known modulator of VGSCs. However, its potential antitumor effects and underlying mechanisms have not been reported. This study investigated the antitumor activity of recombinant BmK IT2 in mouse neuroblastoma (Neuro-2a) and human glioma (H4) cell lines. Electrophysiological analyses confirmed its canonical VGSC-modulating activity, characterized by a shift of the half-activation voltage to more negative potential, promoting channel activation, while suppressing peak sodium channels. BmK IT2 exhibited a dose-dependent anti-proliferative effect in both Neuro-2a and H4 cells, while modulating migratory and invasive behaviors in a cell line-specific manner: it promoted migration but inhibited invasion in Neuro-2a cells, whereas in H4 cells it enhanced invasion but did not affect migration consistently. Quantitative transcriptomics unveiled that BmK IT2 induces extensive transcriptional reprogramming of key pathways such as TNF/NF-κB and HIF-1 signaling. Mechanistically, the anti-proliferative effect was correlated with downregulation of VGSC subunits (Scn2a, Scn3a, Scn8a, Scn1b) and sphingolipid metabolism enzymes (ASAH1, UGCG) in Neuro-2a cells. Preliminary biosafety assessment showed that local intracranial administration of BmK IT2 did not induce significant systemic or histological toxicity. These findings suggest that BmK IT2 may influence proliferation, migration, and invasion of neural tumor cells in association with VGSC modulation and/or transcriptional reprogramming, and may serve as a molecular template for the development of novel anti-cancer peptides with multifaceted mechanisms. - Source: PubMed
Publication date: 2026/05/25
Jing ShiqiWang JishuaiCheng ShuaiMa QingqingTao JieWang HongjieJi YonghuaTan ZhiyongZhou You - The gene encodes the voltage-gated sodium channel Na1.6, which is essential for neuronal excitability and action potential propagation. variants are associated with a broad clinical spectrum, ranging from self-limiting syndromes to developmental and epileptic encephalopathies. Here, we identified a novel heterozygous variant (c.791 T > C/p.Val264Ala) in a 19-year-old female patient. This variant was absent in gnomAD and was predicted to be damaging by multiple in tools. According to the American College of Medical Genetics and Genomics guidelines, the variant was evaluated as "likely pathogenic." The patient presented with frequent cluster seizures characterized by early onset, remission in childhood, and recurrence in adolescence. The electroencephalograph revealed multifocal epileptiform discharges. The patient was diagnosed with developmental and epileptic encephalopathy. Treatment with sodium channel blockers (oxcarbazepine and lamotrigine) achieved seizure control, a clinical response that suggests a potential gain-of-function effect of the variant. The brain temporal expression of gradually increases after birth with a peak during infancy, declines through childhood, and rises significantly in adolescence, explaining the development of the patient's clinical course. This study contributes to the genotype-phenotype correlation of -related diseases and highlights the implication of genetic-dependent expression (stage) in clinical assessment. - Source: PubMed
Publication date: 2026/05/08
He XuetaoZhang DongmingGan RongChen JielingLin ZishengLiang WeijieZhang Yuhu