1,622
Views
3
CrossRef citations to date
0
Altmetric
Medical Genetics & Genomics

Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population

, , , , , , , , , , , & show all
Pages 1938-1951 | Received 27 Jan 2022, Accepted 26 Jun 2022, Published online: 08 Jul 2022

References

  • Steinlein OK. Genetics and epilepsy. Dialogues Clin Neurosci. 2008;10(1):29–38.
  • Anwar H, Khan QU, Nadeem N, et al. Epileptic seizures. Discoveries (Craiova). 2020;8(2):e110.
  • Valton L, Benaiteau M, Denuelle M, et al. Etiological assessment of status epilepticus. Rev Neurol (Paris). 2020;176(6):408–426.
  • Barela AJ, Waddy SP, Lickfett JG, et al. An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability. J Neurosci. 2006;26(10):2714–2723.
  • Baulac S, Huberfeld G, Gourfinkel-An I, et al. First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene. Nat Genet. 2001;28(1):46–48.
  • Benbir G, Uysal S, Saltik S, et al. Seizures during treatment of vitamin B12 deficiency. Seizure. 2007;16(1):69–73.
  • Andavan GSB, Lemmens-Gruber R. Voltage-gated sodium channels: mutations, channelopathies and targets. Curr Med Chem. 2011;18(3):377–397.
  • Widmark J, Sundstrom G, Ocampo Daza D, et al. Differential evolution of voltage-gated sodium channels in tetrapods and teleost fishes. Mol Biol Evol. 2011;28(1):859–871.
  • Mulley JC, Scheffer IE, Petrou S, et al. SCN1Amutations and epilepsy. Hum Mutat. 2005;25(6):535–542.
  • Esterhuizen AI, Mefford HC, Ramesar RS, et al. Dravet syndrome in South African infants: tools for an early diagnosis. Seizure. 2018;62:99–105.
  • Escayg A, Goldin AL. Sodium channel SCN1A and epilepsy: mutations and mechanisms. Epilepsia. 2010;51(9):1650–1658.
  • Margari L, Legrottaglie AR, Vincenti A, et al. Association between SCN1A gene polymorphisms and drug resistant epilepsy in pediatric patients. Seizure. 2018;55:30–35.
  • Patino GA, Claes LR, Lopez-Santiago LF, et al. A functional null mutation of SCN1B in a patient with dravet syndrome. J Neurosci. 2009;29(34):10764–10778.
  • Ramadan W, Patel N, Anazi S, et al. Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy. Clin Genet. 2017;92(3):327–331.
  • Haerian BS, Baum L, Kwan P, et al. SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis. Pharmacogenomics. 2013;14(10):1153–1166.
  • Hammer MF, Wagnon JL, Mefford HC, et al. SCN8A-Related epilepsy with encephalopathy. 2016. In: Adam MP, Ardinger HH, Pagon RA editors. GeneReviews® [internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK379665/
  • Howell KB, McMahon JM, Carvill GL, et al. SCN2Aencephalopathy. Neurology. 2015;85(11):958–966.
  • Lu Y, Su Q, Li M, et al. Association of SCN1A, SCN2A, and UGT2B7 polymorphisms with responsiveness to valproic acid in the treatment of epilepsy. Biomed Res Int. 2020;2020:8096235–8096238.
  • Lamar T, Vanoye CG, Calhoun J, et al. SCN3A deficiency associated with increased seizure susceptibility. Neurobiol Dis. 2017;102:38–48.
  • Zaman T, Helbig I, Božović IB, et al. Mutations in SCN3A cause early infantile epileptic encephalopathy. Ann Neurol. 2018;83(4):703–717.
  • Voros NS, Antonopoulos C. Cyberphysical systems for epilepsy and related brain disorders. In: Multi-parametric monitoring and analysis for diagnosis and optimal disease management; 2015.
  • Gong J, Liao H, Long H, et al. SCN1B and SCN2B gene variants analysis in dravet syndrome patients. Medicine (Baltimore). 2019;98(13):e14974.
  • Bender AC, Morse RP, Scott RC, et al. SCN1A mutations in dravet syndrome: Impact of interneuron dysfunction on neural networks and cognitive outcome. Epilepsy Behav. 2012;23(3):177–186.
  • Shneker BF, Fountain NB. Epilepsy. Dis Mon. 2003;49(7):426–478.
  • Sokka A, Olsen P, Kirjavainen J, et al. Etiology, syndrome diagnosis, and cognition in childhood-onset epilepsy: a population-based study. Epilepsia Open. 2017;2(1):76–83.
  • Ma QL, Wang B, Chen GF, et al. Association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus. Zhongguo Dang Dai er ke za Zhi = Chinese Journal of Contemporary Pediatrics. 2018;20(2):130–133.
  • Makoff A, Lai T, Barratt C, et al. High-density SNP screen of sodium channel genes by haplotype tagging and DNA pooling for association with idiopathic generalized epilepsy. Epilepsia. 2010;51(4):694–698.
  • Wang ZJ, Chen J, Chen HL, et al. Association between SCN1A polymorphism RS3812718 and valproic acid resistance in epilepsy children: a case–control study and Meta-analysis. Bioscience Reports. 2018;38(6):1–8.
  • Christensen J, Kjeldsen MJ, Andersen H, et al. Gender differences in epilepsy. Epilepsia. 2005;46(6):956–960.
  • Liao J, Huang T, Srour M, et al. Status epilepticus manifested as continuous epileptic spasms. Front Neurol. 2020;11:65.
  • Kwan P, Poon WS, Ng H, et al. Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: Correlation among phenotype, genotype, and mRNA expression. Pharmacogenet Genomics. 2008;18(11):989–998.