Ask about this productRelated genes to: KCNQ2 antibody
- 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
Related articles to: KCNQ2 antibody
- TAR DNA binding protein 43 (TDP-43) pathology is a defining pathological hallmark of multiple neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). A major feature of TDP-43 pathology is its nuclear depletion, leading to the aberrant inclusion of cryptic exons during RNA splicing. and have emerged as prominent TDP-43 splicing targets, but the broader impact of TDP-43-dependent cryptic splicing on neuronal function remains unclear. Here, we report previously unidentified TDP-43 splicing targets critical for membrane excitability and synaptic function, including , , , and . Using human stem cell-derived neurons, we showed that TDP-43 reduction induces cryptic splicing and down-regulation of these genes, resulting in impaired excitability and synaptic transmission. In postmortem brains from patients with FTD, these cryptic splicing events occurred selectively in neurons with TDP-43 pathology. Suppressing individual cryptic splicing events using antisense oligonucleotides partially restored neuronal function, and combined targeting almost fully rescued the synaptic deficit caused by TDP-43 loss. Together, our findings provide evidence that cryptic splicing in these synaptic and membrane excitability genes is not only a downstream marker but instead a direct driver of neuronal dysfunction, establishing a mechanistic link between TDP-43 pathology and neurodegeneration in ALS and FTD. - Source: PubMed
Publication date: 2026/06/03
Guo CaiweiChen KuchuanVatsavayai SaratAkiyama TetsuyaLiu ChangZeng YiSianto OdiliaYang EdithBombosch JulianePowell RasheenZhen ShannonMekhoubad ShilaMorrie Ryan DMiller GeorgianaIlic DraganaBoll MoritzParnell EuanPenzes PeterLipstein NoaGreen Eric MPetrucelli LeonardSeeley William WGitler Aaron D - Developmental and epileptic encephalopathy 7 (DEE7) is a severe neurodevelopmental disorder stemming from mutations in the gene, which encodes a critical voltage-gated potassium channel subunit. While mutations are known to cause a spectrum of diseases, from benign familial neonatal seizures (BFNS1) to drug-resistant DEE7, the clinical outcomes specifically associated with large deletions-a rare mechanism causing haploinsufficiency-are not well defined. This study reports a large deletion and aims to delineate the associated clinical trajectory and treatment response. - Source: PubMed
Publication date: 2026/05/14
Qi YangfanLin ShuangzhuZhou YingChen YanzhiFeng XiaochunJiang KaiFeng Jinhua - KCNQ2 encodes the Kv7.2 channel, which mediates the M-current and regulates neuronal excitability. Pathogenic variants of KCNQ2 are associated with a spectrum of neonatal epilepsies, ranging from self-limited familial neonatal epilepsy to severe Developmental and Epileptic Encephalopathy (DEE), characterized by early seizure onset within the first week after birth, seizure clustering, and poor long-term neurodevelopment. Despite advances in molecular diagnosis, current treatment options remain limited and are not specific to Kv7.2 modulation, underscoring the need for therapies that target the underlying KCNQ2 channel dysfunction. Pharmacological modifiers of Kv7- mediated currents, such as retigabine, have demonstrated the restoration of impaired M-currents, but safety concerns limit their clinical application. Recent progress has led to the development of nextgeneration Kv7 activators, such as XEN1101, as well as other investigational compounds with improved potency, selectivity, and tolerability. These agents have shown promise for the treatment of epilepsy in adults in both preclinical and clinical studies, but evidence in children remains limited. Indirect modulators acting through sodium channels, GABAergic pathways, or network-level mechanisms may provide seizure control but are less likely to address the underlying channel dysfunction or improve neurodevelopmental outcomes. Challenges persist in translating in vitro efficacy into treatable clinical outcomes, particularly in neonates with DEE. Safety considerations, biomarkers of treatment responsiveness, and neurodevelopmental effects require careful evaluation. Nonetheless, the evolving pharmacological landscape highlights KCNQ2 channels as attractive and druggable targets in epilepsy, offering opportunities for mechanism-based therapies that could transform the management of this rare but devastating DEE. - Source: PubMed
Publication date: 2026/05/25
Lee Inn-ChiYang Shi-BingWong Swee-HeeYang Jiann-JouLi Shuan-Yow - Corylin (3-(2,2-dimethylchromen-6-yl)-7-hydroxychromen-4-one), a bioactive flavonoid, has been reported to exercise anti-inflammatory, antineoplastic, and antioxidant effects, and may also possess lifespan-extending properties. Any modifications of transmembrane ionic currents produced by corylin remain largely unknown. The patch-clamp technique and docking prediction were used in this study. In pituitary GH somatolactotrophs, corylin concentration-dependently increased the magnitude of the M-type K current (), with an EC of 3.8 μM. Concurrently, the activation time constant of was shortened. The addition of linopirdine (10 μM), an inhibitor, suppressed the current amplitude. Corylin also induced a leftward shift in the steady-state activation curve and enhanced during pulse-train stimulation. Moreover, corylin increases the hysteretic strength of evoked by a long-lasting triangular ramp pulse; this effect was attenuated by linopirdine. The stimulatory effect of corylin on was not altered by carvedilol or iberiotoxin but was reduced by dapagliflozin. In contrast, depolarization-activated was not affected by 17β-estradiol alone. In cell-attached recordings, corylin increased M-type K (K)-channel activity with minimal change in single-channel amplitude, while prolonging the mean open time. This stimulatory effect was reversed by linopirdine or dapagliflozin. Additionally, corylin slightly inhibited the -mediated current. Docking analysis further suggested that corylin potentially interacts with residues in KCNQ2 or KCNH2 channels via hydrogen bonding and hydrophobic interactions. These findings suggest that corylin modulates ionic currents, primarily through K (KCNQ/K7) channels, which may underlie its in vivo actions and those of related flavonoids. These effects may contribute to the regulation of functional activities of neuronal, neuroendocrine, and endocrine cells. - Source: PubMed
Publication date: 2026/04/30
Wu Sheng-NanLiutkevičienė RasaLin Sheng-Che - Developmental and epileptic encephalopathies (DEEs) with early burst-suppression EEG (EIDEE-BS) are among the most severe neonatal epileptic syndromes, typically presenting in the first months of life with refractory seizures and profound neurodevelopmental impairment. Although variants in the , , and genes are recognized as major causes, the full genetic spectrum remains uncertain. We aimed to delineate the electroclinical characteristics, genetic etiologies, and long-term outcomes in a large MRI-negative EIDEE-BS cohort. - Source: PubMed
Publication date: 2026/05/26
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