Application of Massive Parallel DNA Sequencing to Diagnose Drug-Resistant Epilepsy in Children
Tóm tắt
Từ khóa
Tài liệu tham khảo
Thijs, R.D., Surges, R., O’Brien, T.J., and Sander, J.W., Epilepsy in adults, Lancet, 2019, vol. 393, no. 10172, pp. 689–701. https://doi.org/10.1016/s0140-6736(18)32596-0
Myers, C.T. and Mefford, H.C., Advancing epilepsy genetics in the genomic era, Genome Med., 2015, vol. 7, no. 1, p. 91. https://doi.org/10.1186/s13073-015-0214-7
Xue-Ping, W., Hai-Jiao, W., Li-Na, Z., Xu, D., and Ling, L., Risk factors for drug-resistant epilepsy: A systematic review and meta-analysis, Medicine, 2019, vol. 98, no. 30, article no. e16402. https://doi.org/10.1097/md.0000000000016402
Illumina DRAGEN Bio-IT Platform. https://www.illumina.com/products/by-type/informatics-products/dragen-bio-it-platform.html. Accessed April 23, 2021.
Symonds, J.D. and McTague, A., Epilepsy and developmental disorders: Next generation sequencing in the clinic, Eur. J. Pediatr. Neurol., 2020, vol. 24, pp. 15–23. https://doi.org/10.1016/j.ejpn.2019.12.008
Oyrer, J., Maljevic, S., Scheffer, I.E., Berkovic, S.F., Petrou, S., and Reid, C.A., Ion channels in genetic epilepsy: From genes and mechanisms to disease-targeted therapies, Pharmacol. Rev., 2018, vol. 70, no. 1, pp. 142–173. https://doi.org/10.1124/pr.117.014456
Myers, C.T., McMahon, J.M., Schneider, A.L., Petrovski, S., Allen, A.S., Carvill, G.L., et al., De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies, Am. J. Hum. Genet., 2016, vol. 99, no. 2, pp. 287–298. https://doi.org/10.1016/j.ajhg.2016.06.003
Hirose, S., Mutant GABAA receptor subunits in genetic (idiopathic) epilepsy, in Progress in Brain Research, Elsevier, 2014, vol 213, pp. 55–85. https://doi.org/10.1016/b978-0-444-63326-2.00003-x
Carvill, G.L., Weckhuysen, S., McMahon, J.M., Hartmann, C., Moller, R.S., Hjalgrim, H., et al., GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome, Neurology, 2014, vol. 82, no. 14, pp. 1245–1253. https://doi.org/10.1212/wnl.0000000000000291
Feldman, D., Banerjee, A., and Sur, M., Developmental dynamics of Rett syndrome, Neural Plast., 2016, vol. 2016, pp. 1–9.
Chen, H., Qian, Y., Yu, S., Xiao, D., Guo, X., Wang, Q., et al., Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants, Eur. J. Med. Genet., 2019, vol. 62, no. 2, pp. 149–160. https://doi.org/10.1016/j.ejmg.2018.07.002
