Ask about this productRelated genes to: Kcnt1 antibody
- Gene:
- KCNT1 NIH gene
- Name:
- potassium sodium-activated channel subfamily T member 1
- Previous symbol:
- -
- Synonyms:
- KCa4.1, KIAA1422, SLACK, Slo2.2
- Chromosome:
- 9q34.3
- Locus Type:
- gene with protein product
- Date approved:
- 2002-07-10
- Date modifiied:
- 2016-04-25
Related products to: Kcnt1 antibody
Related articles to: Kcnt1 antibody
- - Source: PubMed
Publication date: 2026/04/21
Abuhl AmandaBryan BradWright MeganRosenberg AllisonWest JustinDrislane Sarah - This systematic review aimed to summarize recent progress in precision medicine for all studied potassium gene variants related to epilepsy. It analyzed studies conducted in cell and animal models and in humans. - Source: PubMed
Publication date: 2026/04/16
Xie ChangningYin FeiKessi MiriamPeng Jing - KCNT1-related epileptic encephalopathy, including epilepsy of infancy with migrating focal seizures, is a severe neurodevelopmental disorder associated with refractory seizures, profound neurologic impairment and premature death. It is caused by de novo genetic variants in KCNT1 that alter the function of Slack, an evolutionarily conserved sodium-gated potassium channel that modulates neuronal firing patterns and excitability. Pathogenic KCNT1 variants lead to overactive Slack channels, boosting total neuronal potassium currents by up to 40%, driving cortical hyperexcitability and causing seizures. Here we investigate antisense oligonucleotide-mediated KCNT1 knockdown as a therapeutic strategy for patients with epilepsy of infancy with migrating focal seizures. Intrathecal delivery of an experimental, non-allele-specific, KCNT1-targeting antisense oligonucleotide by lumbar puncture in two 2-year-old females with KCNT1 p.R474H, a severe, recurrent pathogenic variant, led to a significant reduction in seizure frequency and intensity. However, investigational treatment was also associated with the development of ventricular enlargement or hydrocephalus in both patients, prompting in one case the redirection of goals of care, pointing to a potential monitorable toxicity of some intrathecal antisense oligonucleotides. - Source: PubMed
Publication date: 2026/04/14
Nakayama TojoEl Achkar Christelle MBurbano Lisseth EQuraishi Imran HWu JingLi MelodyAsami YutaroGolinski Sean RSherrill EmmaGoodlett Benjamin Dde Gusmao Claudio MFriedman Danielle ALentucci ClaudiaSuslovitch VictoriaRiccardi OliviaFaour Kamli N WKuniholm AshleySoucy Verran AubrieCoffman SiobhanAhtam BanuZhao BoxunChin Diana HDiDonato Renata LHu Chunguang ALopez EdithHills SoniaMaljevic SnezanaTran HeleneBush Lynn WGrant Patricia EllenMadsen Joseph RSmith Richard SKaczmarek Leonard KBerde Charles BYu Timothy W - Sodium-activated potassium channels (K) are extensively expressed throughout the central nervous system (CNS) and play a pivotal role in modulating neuronal excitability. The K achieve this by regulating the threshold for action potential initiation and the magnitude of post-hyperpolarization. The KCNT1 gene encodes the α subunit of K, also known as Slack channel, is crucial for governing the membrane excitability of neurons. Mutations in the KCNT1 gene impair the function of these potassium channels, leading to seizures and a spectrum of epileptic disorders. These conditions are often intractable and can range in severity from moderate to profound. This article delves into the subject of Slack channel detailing their architecture, physiological functions, distribution, and expression patterns, as well as their essential role in the nervous system. Additionally, we address the topic of epilepsy resulting from mutations in the KCNT1 gene and the therapeutic strategies currently available for managing these challenging conditions. - Source: PubMed
Publication date: 2026/03/02
Wei YueZahra AqeelaWang QunWu Jianping - This retrospective cohort study evaluated the tolerability, efficacy, and safety of adjunctive cannabidiol (CBD) therapy in pediatric-onset intractable epilepsy across diverse genetic and nongenetic etiologies. Twenty-nine patients aged 6 to 24 years, treated at Korea University Hospitals between April 2019 and May 2024, were included. The median follow-up duration was 14.3 months. Confirmed genetic etiologies included SCN1A-related epilepsy (6.9%); GABRB3-, SCN2A-, KCNT1-, KIF1A-, and COL4A1-related epilepsies (3.4% each); Angelman syndrome and Down syndrome (3.4% each). Presumed genetic etiologies included hemimegalencephaly (3.4%) and cortical dysplasia (6.9%). Acquired causes included hypoxic brain injury (6.9%) and CNS infection (10.3%). In 41.4% of cases, the etiology was unidentified; among them, 58.3% had a history of infantile spasms. At CBD initiation, patients were receiving a median of 5 antiseizure medications, most commonly valproic acid (93.1%), clobazam (82.8%), and levetiracetam (75.9%). The median maintenance dose of CBD was 14.2 mg/kg/d. The retention rate was above 86% at both 12 and 24 months. At 12 months, 79.3% achieved a ≥50% reduction in seizure frequency, and 34.5% achieved a ≥75% reduction without generalized motor seizures. One patient with a GABRB3 variant achieved seizure freedom. Adverse events occurred in 37.9%, most commonly somnolence and lethargy. These were mild and resolved with antiseizure medication adjustments. CBD was discontinued in 3 patients due to pneumonia, lethargy, or seizure aggravation. CBD therapy demonstrated favorable retention, efficacy, and safety profiles in pediatric-onset intractable epilepsy across a spectrum of etiologies. - Source: PubMed
Shim YoungkyuYang Dong HwaByeon Jung HyeEun Baik-Lin