KCNQ2 antibody - middle region (ARP35459_T100)
- Known as:
- KCNQ2 (anti-) - middle region (ARP35459_T100)
- Catalog number:
- arp35459_t100
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- KCNQ2 antibody - middle region (ARP35459_T100)
Related genes to: KCNQ2 antibody - middle region (ARP35459_T100)
- Gene:
- KCNQ2 NIH gene
- Name:
- potassium voltage-gated channel subfamily Q member 2
- Previous symbol:
- EBN, EBN1
- Synonyms:
- Kv7.2, ENB1, BFNC, KCNA11, HNSPC
- Chromosome:
- 20q13.33
- Locus Type:
- gene with protein product
- Date approved:
- 1998-01-12
- Date modifiied:
- 2016-02-04
Related products to: KCNQ2 antibody - middle region (ARP35459_T100)
Related articles to: KCNQ2 antibody - middle region (ARP35459_T100)
- Genetic epilepsies presenting in the neonatal period and early infancy require time-critical, mechanism-aware decisions. Amplitude-integrated EEG (aEEG) provides continuous bedside screening in the NICU, but its yield improves when seizures are confirmed and characterized with multichannel conventional EEG (referred to here as rEEG; the term "continuous EEG or cEEG" is reserved for prolonged monitoring). In KCNQ2/KCNQ3 and SCN2A channelopathies, a distinctive ictal aEEG sequence-brief initial attenuation/decrease, rapid rise, and postictal depression-correlates with reproducible ictal features on rEEG/cEEG. Recognizing this signature may prompt rapid genetic testing and, when clinically appropriate, earlier targeted therapy with sodium-channel blockers, reducing prolonged ineffective polytherapy. SCN8A shows broader electroclinical heterogeneity without a single signature; however, normal brain MRI combined with high early seizure burden (often bilateral tonic-clonic seizures) and a progressively abnormal EEG should raise suspicion. This narrative review provides a pragmatic framework for SCN2A, SCN8A, KCNQ2, and KCNQ3, integrates the phenotype spectrum (including self-limited forms with potentially normal EEG), highlights safety considerations (including SUDEP), and briefly summarizes emerging precision-therapy under clinical investigation. - Source: PubMed
Appendino Juan P - Voltage-gated potassium channel genes are among the most frequently implicated in epilepsy and antiseizure medication (ASM) response. In this pilot study, we aimed to identify rare and common variants by sequencing voltage-gated potassium channel (Kv) genes in epilepsy patients using ASM, and to reveal the potential drug responses of these variants. To investigate the role of genetic variants in Kv genes (, , , , , and ) in response to ASMs among 31 epilepsy patients, we used targeted next-generation sequencing (tNGS). Patients were classified as responders or persistent based on seizure control status. Selected variants in the genes were annotated, filtered, and analyzed for association with ASM response. We identified 181 variants in the 6 channel genes, including missense, synonymous, intronic, UTR, and stop-gained variants. Six variants of uncertain significance (VUSs) were observed, including c.*1314C>T, c.*976G>A, (c.2613G>T p.Arg871Ser and c.1148+62T>G), and (c.*6282A>G and c.*2860T>C) Two novel variants were identified in our study group, :c.*1314C>T and :c.*2860T>C. Both were located in the 3' UTR region and classified as VUSs according to ACMG guidelines. In the gene, the CG haplotype comprising rs7029012 and rs10967705 was observed more frequently in patients with drug-persistent epilepsy than in those with drug-responsive epilepsy (18.5% vs. 0.8%; χ = 6.756, = 0.009, BH-FDR = 0.036), suggesting a potential association with pharmacoresistant epilepsy. Our haplotype analysis suggests the potential pharmacogenetic contribution of the gene to ASM response; however, these exploratory findings require validation in larger independent cohorts and functional studies. - Source: PubMed
Publication date: 2026/07/29
Pekkoc-Uyanik Kubra CigdemTodurga-Seven Zeynep GizemAgay Erhan RasitUzun Hafize - Neonatal encephalopathy (NE) is a major cause of neonatal mortality and long-term neurological disability. Although hypoxic-ischaemic encephalopathy (HIE) is the most common cause, several genetic disorders may mimic or coexist with hypoxic-ischaemic injury. Next-generation sequencing has emerged as a promising diagnostic tool in this setting. This systematic review evaluated the current evidence on genomic sequencing in NE. - Source: PubMed
Publication date: 2026/07/24
Colacurci DarioSarno LauraFiore EmmanuelRaimondi FrancescoMartinelli NinaSirico AngeloDi Carlo CostantinoBifulco GiuseppeGuida MaurizioMaruotti Giuseppe Maria - Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by early-onset macrocephaly, white matter edema, seizures, and motor and cognitive decline. Approximately 25% of MLC patients carry HEPACAM pathogenic variants, many of which are dominant missense variants causing remitting MLC Type 2b. HEPACAM encodes hepatic and glial cell adhesion molecule (hepaCAM), also known as GlialCAM, an astrocyte-enriched transmembrane protein with important roles in astrocyte territory establishment, gap junction coupling, branching organization, synaptic function, and development of the gliovascular unit. The molecular mechanisms through which pathogenic variants in HEPACAM alter hepaCAM protein function in vivo and facilitate MLC pathogenesis during brain development remain largely unknown. Here, we used new viral tools and proximity-based proteomics to examine how three different dominant pathogenic variants alter hepaCAM subcellular localization and protein interactome in astrocytes of the developing mouse cortex. We found dramatic changes in hepaCAM distribution throughout the astrocyte, which were common to all mutants tested. We also observed significant changes in protein interactome between wild type and mutant hepaCAM, including decreased association with previously described hepaCAM-interacting proteins Connexin 43 and CLC-2. Moreover, we identified the epilepsy-associate potassium channel KCNQ2 as a novel hepaCAM interaction partner and found reduced association between KCNQ2 and pathogenic variants. Collectively, our data provide new insights into hepaCAM protein function in astrocytes during brain development, reveal altered protein dynamics of pathogenic variants, and provide a new resource to explore the molecular underpinnings of MLC pathogenesis. - Source: PubMed
Lewis Robert WDogan Breana CStanek Amy LEvans Elliot BCoble Madelyn GSpence-Osorio Hayli EFarizatto Karen L GMordant Angie LMills C AllieHerring Laura EBaldwin Katherine T - This study evaluates the impacts of p-coumaric acid in the challenging condition of diabetic neuropathy, within a focus on Kv7 channel-mediated mechanisms. - Source: PubMed
Publication date: 2026/08/18
Altinok Feyza AlyuAcıkgul Muhammet BurakBurak YusufBoubekka AbderaoufAlyu Furkan MelihHasan AhmedDallali IlhemTilki Elif KayaOzturk Yusuf