因此,探讨KCNT1药理学特性,寻找有效且能立即用于临床的KCNT1通道阻滞剂对治疗KCNT1相关癫痫至关重要。 近日,来自徐州医科大学的张赭、唐琼瑶教授团队在ActaPharmacologicaSinica上发表了题为“ElectrophysiologicalcharacterizationofhumanKCNT1channelmodulatorsandthetherapeuticpotentialofhydroquinineandtipepidineinKCNT1mutation-a...
While KCNT1 mutation in itself could account for the increased excitability and seizure phenotype, the severity of the developmental delay in children with EIMFS suggests an independent developmental role for this gene. In addition to regulating ion flux, a number of channels have nonconducting funct...
An epilepsy-associated KCNT1 mutation enhances excitability of human iPSC-derived neurons by increasing slack KNa currents. J Neurosci, 2019, 39(37): 7438-7449. 13. Shore AN, Colombo S, Tobin WF, et al. Reduced GABAergic neuron excitability, altered synaptic connectivity, and seizures in a...
An epilepsy-associated KCNT1 mutation enhances excitability of human iPSC-derived neurons by increasing slack KNa currents. J Neurosci, 2019, 39(37): 7438-7449. 13. Shore AN, Colombo S, Tobin WF, et al. Reduced GABAergic neuron excitability, altered synaptic connectivity, and seizures in a...
This child had a novel heterozygous missense mutation in exon10 of the KCNT1 gene (chr9:138650308; c.808C>C/G (p.Q270E)) which was pathogenic. Neither quinidine nor ketogenic diet could control his seizures. Ultimately, the child succumbed to his illness at nine months of age. Copyright...
【Keywords 】 Epilepsy in infancy with migrating focal seizures（EIMFS）;KCNT1 mutation;Drug refractory epilepsy ·论 著·作者单位：050031 石家庄，河北省儿童医院神经内科 通信作者：孙素真，Email ：sunsuzhen2004@126.com 婴儿癫痫伴游走性局灶性发作（epilepsy in infancy with migrating focal seizures,EI...
The clinical features of children with KCNT1 mutation were summarized. ResultsIn 175 infants with early-onset epileptic encephalopathy, 6 children were found to have KCNT1 mutations, all of which were new mutations with an overall mutation rate of 3.4% (6/175). All the mutations were missense...
Theeffectofquinidineandketogenicdietneedstobeclarifiedbytreatmentstudiesofalargesample.Keywords:Epilepsyofinfancywithmigratingfocalseizures;KCNT1;Geneticmutation0 引言婴儿癫痫伴游走性局灶性发作(Epilepsyofinfancywithmigratingfocalseizures,EIMFS) 于1995 年由意大利学者 Coppola等 [1] 首次报道,属于癫痫脑病范畴。
The p.Pro924Leu mutation has been found in 2 patients with EIMFS, in vitro studies in heterologous expression systems have shown a significant gain of function effect of the mutation, resulting in large potassium currents compared to the wild type (WT) channel.Design/Methods C57BL/6 mice ...
【Keywords】 Epilepsy in infancy with migrating focal seizures(EIMFS);KCNT1 mutation;Drug refractory epilepsy·论著·作者单位 :050031 石家庄,河北省儿童医院神经内科通信作者 :孙素真,Email :sunsuzhen2004@126.com婴 儿癫痫伴游走性局灶性发作(epilepsy in infancy with migrating focal seizures,EIMFS) 既往...