Journal of Jilin University(Medicine Edition) ›› 2020, Vol. 46 ›› Issue (01): 194-199.doi: 10.13481/j.1671-587x.20200134
Previous Articles Next Articles
Research progress in KCNT1 gene-related epilepsy
-
Received:2019-06-19Online:2020-01-28Published:2020-02-03
CLC Number:
- R742.1
Cite this article
share this article
| [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. |
|