Verbeek N, Stamberger H, Weckhuysen S, Ceulemans B, Schoonjans AS, Rossi M, Demarquay G, Lesca G, Olofsson K, Koolen DA, Hornemann F, Baulac S, Rubboli G, Minks KQ, Lee B, Helbig I, Dlugos D, Møller RS, ...
Finally, we outlooked the recent advances in precision medicine treatment for KCNT1-related epilepsy.doi:10.1007/s10072-022-06521-xRu,LiuLei,SunYunfu,WangQun,WangJianping,WuNeurological sciences
Targeting KNa1.1 channels in KCNT1-associated epilepsy KCNT1mutations are associated with treatment-resistant epilepsies To date, upwards of 50 distinctmissenseGOF pathogenic variants ofKCNT1have been associated with severe, refractory, developmental, and epileptic encephalopathies (DEEs) [1].KCNT1encodes...
Treatmentwithquinidineshowednosignificanteffectandprolonged QT interval.Allthe4childrenhadsignificantmotorandmentalretardation. Conclusion TheonsetofEIMFSwithKCNT1genemutationisatanearlyage,usuallyinneonatalandearlyinfantperiod. Themainseizuretypewasepilepsyofmigratingfocalseizureanditisfrequent. Patientsusuallyhaveseverep...
MethodsRetrospective analysis of clinical data of 175 children with early onset epilepsy from the Department of Pediatrics at Peking University First Hospital from January 2012 to December 2017. Gene-based analysis was performed on children with targeted capture second-generation sequencing and the source...
Although the relation between these treatments and his symptom improvement is a matter of elucidation, there is a possibility that these nonnarcotic antitussive drugs might play a role in the treatment of EIFMS. Introduction Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare ...
[0040]在一些实施方案中,神经疾病或病症、与过度神经元兴奋性相关的疾病或病状、或与基因(例如kcnt1)中的功能获得性突变相关的疾病或病状是选自由以下组成的群组:伴scn1a、scn2a、scn8a突变的癫痫性脑病、早期婴幼儿癫痫性脑病、dravet综合症、伴scn1a突变的dravet综合症、全面性癫痫伴热性癫痫发作(generalizedepilepsy...
【Abstract 】 Objective To investigate the clinical feature, genetic diagnosis, treatment and prognosis of epilepsy in infancy with migrating focal seizure（EIMFS） caused by mutation of KCNT1 gene. Method The clinical manifestations, EEG characteristics and gene results of a child diagnosed ...
The main seizure type was epilepsy of migrating focal seizure and it is frequent. Patients usually have severe psychomotor developmental delay. The efficacy of antiepileptic drugs is not significant. The effect of quinidine and ketogenic diet needs to be clarified by treatm...
Several recent studies have reported potassium sodium-activated channel subfamily T member 1 (KCNT1) mutations in epilepsy patients on quinidine therapy. The efficacy and safety of quinidine for epilepsy treatment, however, remains controversial. We herein report the cases of four patients with KCNT1...