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Ivanova A.S.

Institute of Genetics and Cytology of the National Academy of Sciences of Belarus

Sivitskaya L.N.

Institute of Genetics and Cytology of the National Academy of Sciences of Belarus

Kulikova S.L.

Republican Research and Clinical Center of Neurology and Neurosurgery

Liaudanski A.D.

Institute of Genetics and Cytology of the National Academy of Sciences of Belarus

Davydenko O.G.

Institute of Genetics and Cytology of the National Academy of Sciences of Belarus

Massive parallel DNA sequencing for the diagnosis of drug-resistant epilepsy in children

Authors:

Ivanova A.S., Sivitskaya L.N., Kulikova S.L., Liaudanski A.D., Davydenko O.G.

More about the authors

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To cite this article:

Ivanova AS, Sivitskaya LN, Kulikova SL, Liaudanski AD, Davydenko OG. Massive parallel DNA sequencing for the diagnosis of drug-resistant epilepsy in children. Molecular Genetics, Microbiology and Virology. 2021;39(4):35‑38. (In Russ.)
https://doi.org/10.17116/molgen20213904135

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References:

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  2. Myers CT, Mefford HC. Advancing epilepsy genetics in the genomic era. Genome Med. 2015;7(1):91.  https://doi.org/10.1186/s13073-015-0214-7
  3. Xue-Ping W, Hai-Jiao W, Li-Na Z, Xu D, Ling L. Risk factors for drug-resistant epilepsy: A systematic review and meta-analysis. Medicine. 2019;98(30):e16402. https://doi.org/10.1097/md.0000000000016402
  4. Illumina DRAGEN Bio-IT Platform. Accessed April 23, 2021. https://www.illumina.com/products/by-type/informatics-products/dragen-bio-it-platform.html.
  5. Symonds JD, McTague A. Epilepsy and developmental disorders: Next generation sequencing in the clinic. European Journal of Paediatric Neurology. 2020;24:15-23.  https://doi.org/10.1016/j.ejpn.2019.12.008
  6. Oyrer J, Maljevic S, Scheffer IE, Berkovic SF, Petrou S, Reid CA. Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies. Sexton PM, ed. Pharmacol Rev. 2018;70(1):142-173.  https://doi.org/10.1124/pr.117.014456
  7. Myers CT, McMahon JM, Schneider AL, Petrovski S, Allen AS, Carvill GL, et al. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. The American Journal of Human Genetics. 2016;99(2):287-298.  https://doi.org/10.1016/j.ajhg.2016.06.003
  8. Hirose S. Mutant GABAA receptor subunits in genetic (idiopathic) epilepsy. In: Progress in Brain Research. Vol 213. Elsevier; 2014:55-85.  https://doi.org/10.1016/b978-0-444-63326-2.00003-x
  9. Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Moller RS, Hjalgrim H, et al. GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome. Neurology. 2014;82(14):1245-1253. https://doi.org/10.1212/wnl.0000000000000291
  10. Feldman D, Banerjee A, Sur M. Developmental Dynamics of Rett Syndrome. Neural Plasticity. 2016;2016:1-9.  https://doi.org/10.1155/2016/6154080
  11. 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. European Journal of Medical Genetics. 2019;62(2):149-160.  https://doi.org/10.1016/j.ejmg.2018.07.002
  12. Saitsu H, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nature Genetics. 2013;45(4):445-449.  https://doi.org/10.1038/ng.2562

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