Journal of Jilin University(Medicine Edition) ›› 2020, Vol. 46 ›› Issue (01): 194-199.doi: 10.13481/j.1671-587x.20200134
Previous Articles Next Articles
Received:2019-06-19
Online:2020-01-28
Published:2020-02-03
CLC Number:
| [1] CATALDI M, NOBILI L, ZARA F, et al.Migrating focal seizures in autosomal dominant sleep-related hypermotor epilepsy with KCNT1mutation[J].Seizure, 2019,67:57-60. [2] HERON S E, SMITH K R, BAHLO M, et al. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy[J]. Nat Genetics, 2012, 44(11):1188-1190. [3] CHEN Y, BAO X H, ZHANG Q P,et al. Genetic and clinical analysis of children with early-onset epilepsy encephalopathy caused by KCNT1 gene mutation[J].Chin J Pediatr,2018,56(11):824-828. [4] ZHANG Q, LI J, ZHAO Y, et al. Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy[J]. Clin Genet, 2017,91(5):717-724 [5] MIAO P, FENG J H, GUO Y F, et al.Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients[J].Clin Genet, 2018,94(6):512-520. [6] KACZMAREK L K, ALDRICH R W, CHANDY K G, et al. International Union of Basic and Clinical Pharmacology. C. nomenclature and properties of calcium-activated and sodium-activated potassium channels[J]. Pharmacol Rev, 2017, 69(1):1-11. [7] RIZZI S, KNAUS H G, SCHWARZER C. Differential distribution of the sodium-activated potassium channels slick and slack in mouse brain[J]. Comp Neurol, 2016, 524(10):2093-2116. [8] LIM C X, RICOS M G, DIBBENS L M, et al. KCNT1 mutations in seizure disorders:The phenotypic spectrum and functional effects[J].J Med Genet, 2016, 53(4):217-225. [9] HITE R K, YUAN P, LI Z L, et al. Cryo-EM structure of the Slo2.2 Na+-activated K+ channel[J]. Nature, 2015,527(7577):198-203. [10] GERTLER T, BEARDEN D, BHATTACHARJEE A, et al.KCNT1-Related Epilepsy[M]. Seattle (WA):University of Washington, Seattle,2018. [11] MCTAGUE A, NAIR U, MALHOTRA S, et al.Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy[J].Neurology, 2018,90(1):e55-e66. [12] EVELY K M, PRYCE K D, BAUSCH A E, et al. Slack KNa, channels influence dorsal horn synapses and nociceptive behavior[J]. Mol Pain, 2017, 13:1-8. [13] KOBAYASHI Y,TOHYAMA J,KATO M,et al.High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders[J]. Brain Dev, 2016, 38(3):285-292. [14] KIM G E, KRONENGOLD J, BARCIA G, et al. Human slack potassium channel mutations increase positive cooperativity between individual channels[J]. Cell Rep, 2014, 9(5):1661-1672. [15] BAUSCH A E, DIETER R, NANN Y, et al. The sodium-activated potassium channel Slack is required for optimal cognitive flexibility in mice[J]. Learn Mem, 2015, 22(7):323-335. [16] MARTIN H C, KIM G E, PAGNAMENTA A T, et al. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis[J]. Hum Mol Genet, 2014, 23(12):3200-3211. [17] NIDAY Z, TZINGOUNIS A V. Potassium channel gain of function in epilepsy:An unresolved paradox[J]. Neuroscientist,2018,24(4):368-380. [18] MILLIGAN C, LI M, GAZINA E, et al. KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine[J]. Ann Neurol, 2014, 75(4):581-590. [19] D'ANNESSA I, CICCONARDI F, DIMARINO D.Handling FMRP and its molecular partners:Structural insights into Fragile X Syndrome[J].Prog Biophys Mol Biol,2019,141:3-14. [20] 尚可为, 张月华. 婴儿癫痫伴游走性局灶性发作研究进展[J]. 中华儿科杂志, 2017,55(5):396-399. [21] YOSHITOMI S, TAKAHASHI Y, IMAI K, et al.Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)[J].Seizure,2019,65:118-123. [22] KUCHENBUCH M, BENQUET P, KAMINSKA A,et al.Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures[J].Epilepsia, 2019,60(1):20-32. [23] BARCIA G, FLEMING M R, DELIGNIERE A,et al.De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy[J]. Nat Genet, 2012, 44(11):1255-1259. [24] ISHII A, SHIODA M, OKUMURA A,et al.A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy[J]. Gene, 2013, 531(2):467-471. [25] MOLLER R S, HERON S E, LARSEN L H,et al..Mutations in KCNT1 cause a spectrum of focal epilepsies[J]. Epilepsia, 2015, 56(9):e114-e120. [26] OHBA C, KATO M, TAKAHASHI N, et al. De novo KCNT1 mutations in early-onset epileptic encephalopathy[J]. Epilepsia, 2015, 56(9):e121-e128. [27] MADAAN P, JAUHARI P, GUPTA A, et al. A quinidine non responsive novel KCNT1 mutation in an Indian infant with epilepsy of infancy with migrating focal seizures[J]. Brain Dev, 2018, 40(3):229-232. [28] KAWASAKI Y, KUKI I, EHARA E, et al. Three cases of, KCNT1, mutations:malignant migrating partial seizures in infancy with massive systemic to pulmonary collateral arteries[J]. J Pediatr, 2017,191:270-274. [29] LUGARESI E, CIRIGNOTTA F, MONTAGNA P. Nocturnal paroxysmal dystonia[J]. Electroencephalog Clin Neurophysiol, 1987, 75(5):S86-S86. [30] TINUPER P,BISULLI F,CROSS J H,et al. Definition and diagnostic criteria of sleep-related hypermotor epilepsy[J]. Neurology, 2016, 86(19):1834-1842. [31] EVELY K M, PRYCE K D, BHATTACHARJEE A. The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype[J]. Neuroscience, 2017, 351:65-70. [32] SONG J M, HAHN J, KIM S H, et al. Efficacy of treatments for infantile spasms:A systematic review[J]. Clin Neuropharmacol, 2017, 40(2):63-84. [33] OROCK A, LOGAN S, DEAK F. Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome[J]. Mol and Cell Neurosci, 2018, 88:33-42. [34] ARAI-ICHINOI N, UEMATSU M, SATO R, et al. Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy[J]. Hum Genet, 2016, 135(1):89-98. [35] SHI X Y, CHEN J, LU Q, et al. Whole-exome sequencing revealing de novo heterozygous variant of KCNT1 in a twin discordant for benign epilepsy with centrotemporal spikes[J]. J Paediatr Child Health, 2018, 54(6):709-710. [36] RUBBOLI G, PLAZZI G, PICARD F, et al,Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations[J].Ann Clin Transl Neurol,2019,6(2):386-391. [37] JIA Y C, LIN Y, LI J,et al.Quinidine Therapy for lennox-gastaut syndrome with KCNT1 Mutation. A case report and literature review[J].Front Neurol, 2019,10:64. [38] CORNET M C, SANDS T T, CILIO M R. Neonatal epilepsies:clinical management[J]. Semin Fetal Neonatal Med, 2018,23(3):204-212. [39] JUANG J M J, LU T P, LAI L C, et al. Disease-targeted sequencing of ion channel genes identifies de novo mutations in Patients with Non-Familial Brugada Syndrome[J]. Sci Rep, 2014, 4:6733. [40] PARISI P, OLIVA A, COLL VIDAL M, et al. Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation[J]. Epilepsy Res, 2013, 105(3):415-418. [41] AURLIEN D, LEREN T P, ERIK TAUBØ L L, et al. New SCN5A mutation in a SUDEP victim with idiopathic epilepsy[J]. Seizure, 2009, 18(2):158-160. [42] HERON S E, HERNANDEZ M, EDWARDS C, et al. Neonatal seizures and long QT syndrome:A cardiocerebral channelopathy?[J]. Epilepsia, 2010, 51(2):293-296. [43] JOHNSON J N, HOFMAN N, HAGLUND C M, et al. Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy[J]. Neurology, 2009, 72(3):224-231. [44] MIKATI M A, JIANG Y H, CARBONI M, et al. Quinidine in the treatment of KCNT1-positive epilepsies[J]. Ann Neurol, 2015, 78(6):995-999. [45] YOSHITOMI S, TAKAHASHI Y, YAMAGUCHI T, et al.Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutations[J].Epilept Disord, 2019, 21(1):48-54. [46] CHONG P F, NAKAMURA R, SAITSU H, et al. Ineffective quinidine therapy in early onset epileptic encephalopathy with KCNT1 mutation[J]. Ann Neurol, 2016, 79(3):502-503. [47] NUMIS A L, NAIR U, DATTA A N,et al.Lack of response to quinidine in KCNT1-related neonatal epilepsy[J].Epilepsia, 2018,59(10):1889-1898. [48] MULLEN S A, CARNEY P W, ROTEN A, et al. Precision therapy for epilepsy due to KCNT1 mutations:A randomized trial of oral quinidine[J]. Neurology, 2018,90(1):e67-e72. |
| [1] | Jiarui LI,Zhenlin YANG,Fan GAO,Jingjing GUO,Jinzi LI. Effect of miR-34a-5p on hippocampal neuron apoptosis in rats with temporal lobe epilepsy and its mechanism [J]. Journal of Jilin University(Medicine Edition), 2025, 51(4): 939-947. |
| [2] | Weiwei ZHENG,Fan GAO,Zhenlin YANG,Jiarui LI,Jingjing GUO,Jinzi LI. Ameliorative effect of novel antiepileptic drug Q808 on rats with temporal lobe epilepsy and its mechanism [J]. Journal of Jilin University(Medicine Edition), 2024, 50(5): 1243-1249. |
| [3] | Shuya ZHANG,Hongying SUN,Jian MAO,Chengxi MENG,Gelong BA. Expression of circ_EFCAB2 in epileptic cell model and its mechanism [J]. Journal of Jilin University(Medicine Edition), 2023, 49(3): 691-696. |
| [4] | Xiulan YE, Ming LI, Zhaojian WANG, Haiyan ZHAO, Jianning MA, Jing LIU, Yi ZHENG, Shunqing LI, Yu ZHANG. Effects of Cornus officinalis polysaccharide on behavior and multidrug resistance gene 1b and major vault protein expressions in hippocampus tissue of refractory epilepsy young rats [J]. Journal of Jilin University(Medicine Edition), 2021, 47(3): 644-651. |
| [5] | CHEN Min, XIE Ming, WAN Juan. Dynamic variety of serum Nesfatin-1 and its clinical values in evaluation on illness condition and short-term prognosis in patients with epileptic seizure [J]. Journal of Jilin University(Medicine Edition), 2019, 45(01): 105-110. |
| [6] | REN Yanfang, JIANG Yongjie, ZHANG Xiuling, JIANG Shan, WANG Yuhong. Effect of SHH signaling pathway on apoptosis and invasion of trophoblast cells in preeclampsia patientsand its mechanism [J]. Journal of Jilin University Medicine Edition, 2018, 44(03): 510-515. |
| [7] | GU Xiaoyun, ZHANG Shuyan, YUAN Yufan, YANG Libin, LI Yanchao, LI Shulei. Establishment of mouse epileptic neuron model induced by pilocarpine and expressions of F-actin, Calponin 3 and ROCK2 [J]. Journal of Jilin University Medicine Edition, 2017, 43(01): 47-51. |
| [8] | CHENG Chunxu, LI Shulei, GU Xiaoyun, HUANG Kexin, LI Yanchao, ZHANG Shuyan, YANG Libin. Expressions of F-actin,Calponin3,and ROCK2 in cerebral neurons of rats with acute epileptic seizure induced by PTZ [J]. Journal of Jilin University Medicine Edition, 2015, 41(02): 299-303. |
| [9] | CHEN Fu-shun,WANG Zhuo,WANG Xiang-qing,LANG Sen-yang. Changes of orexin-B cells and their nerve fibers in rat epilepsy model at different time points and their significances [J]. J4, 2012, 38(2): 207-210. |
| [10] | LIANG Jian-Min, LI Song, LI Xiu-Jie, ZHANG Shu-Qin, LI Hai-Bo. Influence of low-dose dexamethasone on |electroencephalogram in temporal lobe epileptic male rats [J]. J4, 2011, 37(5): 797-800. |
| [11] | HUANG Yuan-Yuan, LI Hai-Bo, LI Jin-Zi. Effect of erdosteine on |damage of hippocampal neurones and oxidative stress in rats with epilepsy [J]. J4, 2010, 36(6): 1102-1105. |
| [12] | . Observation of |therapeutic effect of levetiracetam monotherapy in epileptic children with mental retardation [J]. J4, 2010, 36(6): 1151-1153. |
| [13] | YANG Hong-Fa, ZHANG Bo, WANG Dan, BIE Li, ZHU Zhan-Feng, XIE Tian, JU Yan. [J]. J4, 2010, 36(4): 749-752. |
| [14] | MA Bao-Xin, ZHANG Li-Gong, WANG Zan, WU Sui-Sheng. Determination of ERK1/2 expression of renal cells in epilepsy rat induced by kainic acid and its significance [J]. J4, 2009, 35(4): 635-638. |
| [15] | SONG Xiao-Ying, WANG Jiang-Chao, LIANG Dong. Anti-convulsion action of histamine H3 receptor antagonists to rat model with intractable epilepsy [J]. J4, 2009, 35(3): 494-498. |