SCN1B antibody
- Known as:
- SCN1B (anti-)
- Catalog number:
- orb101522
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- SCN1B antibody
Related genes to: SCN1B antibody
- Gene:
- SCN1B NIH gene
- Name:
- sodium voltage-gated channel beta subunit 1
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 19q13.11
- Locus Type:
- gene with protein product
- Date approved:
- 1990-05-14
- Date modifiied:
- 2019-04-23
Related products to: SCN1B antibody
Related articles to: SCN1B antibody
- Fenfluramine is approved for Dravet syndrome and Lennox-Gastaut syndrome (LGS) in children under two years of age and is increasingly used off-label for developmental and epileptic encephalopathies (DEEs). Due to the risk of pulmonary arterial hypertension (PAH) and valvular disease, serial echocardiographic monitoring is required. While fenfluramine-associated cardiac toxicity is well described in adults, data in pediatric patients, especially those under two years of age, remain limited. We report a child under two years of age with SCN1B-related DEE who developed asymptomatic fenfluramine-associated PAH after one year of treatment. Fenfluramine resulted in marked seizure reduction but was discontinued after the detection of PAH. Subsequent echocardiography demonstrated resolution of PAH, accompanied by worsening seizure burden. This case emphasizes the rare occurrence of fenfluramine-associated PAH in children under two years of age and underscores the importance of vigilant cardiac surveillance in this population. - Source: PubMed
Publication date: 2026/05/06
Ndukwe UzomaParkey AdrianneSamanta DebopamMasri AbdelrahmanWillis Erin - 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 - 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 - Genetic etiologies underlie a substantial proportion of pediatric dystonia, but whether treatment response to combined dopaminergic and anticholinergic therapy varies by genotype remains unknown. - Source: PubMed
Publication date: 2026/05/12
Zhou XiaolinLi YuLuo XiangyangHe ZhanwenLiu MujinLi Pinggan - Pathogenic variants in SCN1B, the gene encoding the sodium channel β1 subunit, are associated with generalized epilepsy with febrile seizures plus (GEFS+) and related epilepsy disorders. These disorders exhibit phenotypic heterogeneity and varying clinical severity under autosomal dominant as well as recessive inheritance models. The current study investigated the genetic basis of epilepsy in two consanguineous Pakistani families. - Source: PubMed
Muhammad AneesRamzan ShafaqYousaf HammadGhumman Rafia ZafarAli Farhan BahadarKhalily Muhammad AtharAli AsmatAli WajidZia SalmaKhan Najeeb UllahSarwar Muhammad TahirToft MatiasIqbal ZafarFatima Ambrin