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Reflex Seizures in a Patient with CDKL5 Deficiency Disorder

  • Tyler Peikes (a1) (a2), Jessica N. Hartley (a2), Aizeddin A. Mhanni (a1) (a2), Cheryl R. Greenberg (a1) (a2) and Juan Pablo Appendino (a3)...
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Copyright

Corresponding author

Correspondence to: J. P. Appendino, Department of Pediatrics, Cumming School of Medicine, University of Calgary, Alberta Children’s Hospital, 28 Oki Drive NW, Calgary, AB, Canada, T3B 6A8. Email: jp.appendino@ahs.ca

References

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1.Epileptic Encephalopathy, Early Infantile, 2; EIEE2. OMIM. Available at: http://www.omim.org/entry/300672. Published 2016.
2.Evans, JC, Archer, HL, Colley, JP, et al. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet. 2005;13(10):1113–20. doi:10.1038/sj.ejhg.5201451.
3.Engel, J. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia. 2001;42(6):796803. Available at: http://onlinelibrary.wiley.com/doi/10.1046/j.1528-1157.2001.10401.x/full; accessed February 8, 2014.
4.Neul, JL, Kaufmann, WE, Glaze, DG, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68(6):944–50. doi:10.1002/ana.22124.
5.Bahi-Buisson, N, Kaminska, A, Boddaert, N, et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia. 2008;49(6):1027–37. doi:10.1111/j.1528-1167.2007.01520.x.
6.Klein, K, Yendle, SC, Harvey, A, et al. A distinctive seizure type in patients with CDKL5 mutations: hypermotor-tonic-spasms sequence. Neurology. 2011 Apr 19;76(16):1436–8.
7.Martínez, AR, Colmenero, MIA, Pereira, AG, Vilaplana, FXS, Morón, JA, Marfa, MP. Reflex seizures in Rett syndrome. Epileptic Disord. 2011 Dec;13(4):389–93. doi:10.1684/epd.2011.0475.
8.Rudensky, AY, Piccirillo, CA, Mendez, S, et al. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science. 2008 May 30;320(5880):1224–9. doi:10.1126/science.1153252.
9.Singh, J, Santosh, P. Key issues in Rett syndrome: emotional, behavioural and autonomic dysregulation (EBAD) – a target for clinical trials. Orphanet J Rare Dis. 2018 Jul 31;13(1):128. doi:10.1186/s13023-018-0873-8.
10.Okudan, ZV, Özkara, C. Reflex epilepsy: triggers and management strategies. Neuropsychiatr Dis Treat. 2018;14:327–37. doi:10.2147/NDT.S107669.
11.Italiano, D, Striano, P, Russo, E, et al. Genetics of reflex seizures and epilepsies in humans and animals. Epilepsy Res. 2016 Mar;121:4754. doi:10.1016/j.eplepsyres.2016.01.010.
12.Koepp, MJ, Caciagli, L, Pressler, RM, et al. Reflex seizures, traits, and epilepsies: from physiology to pathology. Lancet Neurol. 2016;15(1):92105. doi:10.1016/S1474-4422(15)00219-7.

Keywords

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Reflex Seizures in a Patient with CDKL5 Deficiency Disorder

  • Tyler Peikes (a1) (a2), Jessica N. Hartley (a2), Aizeddin A. Mhanni (a1) (a2), Cheryl R. Greenberg (a1) (a2) and Juan Pablo Appendino (a3)...

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