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Epilepsy in Angelman’s Syndrome

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Objectives. To study the neurological status, clinical/EEG patterns, neuroimaging, and the course of epilepsy in children with genetically confirmed Angelman syndrome. Materials and methods. Data from 47 patients (26 boys and 21 girls aged 2–20 (mean 8.5) years) with genetically verified diagnoses of Angelman’s syndrome were analyzed. Diagnoses were established by DNA methylation analysis in 32 patients and sequencing in 15 (among which there were 12 cases of deletion and three with nucleotide substitutions). Results. Epilepsy was detected in 45 of 47 patients. Seizure debut was at age up to 5 years inclusive. Treatment was with a variety of antiepileptic drugs. Long-term epilepsy follow-up in 40 out of 47 patients showed that drug remission was achieved in 36 of these 40 patients. Relapse after several years of remission occurred in 24 of 36 patients, with rapid recovery in 23 patients. Disease severity was influenced by the type of mutation and the extent of deletions, as well as persistent epileptic seizures. The most effective antiepileptic drugs in study patients were valproic acid, levetiracetam, and ethosuximide as monotherapy, as well as valproic acid in combination with levetiracetam or ethosuximide and, less often, levetiracetam combined with ethosuximide in dual therapy. Conclusions. Early genetic diagnosis of Angelman’s syndrome facilitates the selection of antiepileptic therapy.

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References

  1. Online Mendelian Inheritance in Man (OMIM) Database, https://www.omim.org/entry/105830.

  2. A. I. Dagli, J. Mueller, and C. A. Williams, “Angelman syndrome,” in: GeneReviews [Internet], M. P. Adam et al. (eds.), University of Washington, Seattle (1993–2021), https://www.ncbi.nlm.nih.gov/books/NBK1144.

  3. C. A. Williams, A. L. Beaudet, J. Clayton-Smith, et al., “Angelman syndrome 2005: updated consensus for diagnostic criteria,” Am. J. Med. Genet. A, 140, No. 5, 413–418 (2006), https://doi.org/10.1002/ajmg.a.31074.

    Article  PubMed  Google Scholar 

  4. C. Williams, D. Driscoll, and A. Dagli, “Clinical and genetic aspects of Angelman syndrome,” Genet. Med., 12, 385–395 (2010), https://doi.org/10.1097/GIM.0b013e3181def138.

    Article  CAS  PubMed  Google Scholar 

  5. C. A. Williams, “Angelman syndrome,” in: Management of Genetic Syndromes, S. B. Cassidy and J. E. Allanson (eds.), Wiley-Liss (2010), pp. 69–80.

  6. A. Fumara, A. Pittalà, M. Cocuzza, et al., “Epilepsy in patients with Angelman syndrome,” Ital. J. Pediatr., 36, 31 (2010), https://doi.org/10.1186/1824-7288-36-31.

    Article  CAS  Google Scholar 

  7. G. Gobbi, P. Genton, A. Pini, et al., in: Epileptic Syndromes in Infancy, Childhood and Adolescence. 3. Epilepsies and Chromosomal Disorders, J. Roger et al. (eds.), John Libbey, Eastleigh (2002).

  8. K. D. Valente, C. Fridman, M. C. Varela, et al., “Angelman syndrome: uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns,” Epilepsy Res., 67, No. 3, 163–168 (2005), https://doi.org/10.1016/j.eplepsyres.2005.09.003.

    Article  PubMed  Google Scholar 

  9. K. D. Valente, C. P. Koiffmann, C. Fridman, et al., “Epilepsy in patients with Angelman syndrome caused by deletion of the chromosome 15q11–q13,” Arch. Neurol., 63, 122–128 (2006), https://doi.org/10.1001/archneur.63.1.122.

    Article  PubMed  Google Scholar 

  10. R. L. Thibert, K. D. Conant, E. K. Braun, et al., “Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options,” Epilepsia, 50, No. 11, 2369–2376 (2009), https://doi.org/10.1111/j.1528-1167.2009.02108.x.

    Article  PubMed  Google Scholar 

  11. Y. Ohtsuka, K. Kobayashi, H. Yoshinaga, et al., “Relationship between severity of epilepsy and developmental outcome in Angelman syndrome,” Brain Dev., 27, No. 2, 95–100 (2005), https://doi.org/10.1016/j.braindev.2003.09.015.

    Article  PubMed  Google Scholar 

  12. M. Galván-Manso, J. Campistol, J. Conill, et al., “Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome,” Epileptic Disord., 7, No. 1, 19–25. PMID: 15741136 (2005).

  13. N. Uemura, A. Matsumoto, M. Nakamura, et al., “Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome,” Brain Dev., 27, No. 5, 383–388 (2005), https://doi.org/10.1016/j.braindev.2004.01.009.

    Article  PubMed  Google Scholar 

  14. J. Paprocka, E. Jamroz, B. Szwed-Białozyt, et al., ”Angelman syndrome revisited,” Neurologist, 13, No. 5, 305-312 (2007), https://doi.org/10.1097/01.nrl.0000253067.32759.aa.

    Article  PubMed  Google Scholar 

  15. K. Pelc, S. G. Boyd, G. Cheron, and B. Dan, “Epilepsy in Angelman syndrome,” Seizure, 17, No. 3, 211–217 (2008), https://doi.org/10.1016/j.seizure.2007.08.004.

    Article  PubMed  Google Scholar 

  16. D. H Nolt, J. M. Mott, and W. L. Lopez, “Assessment of anticonvulsant effectiveness and safety in patients with Angelman’s syndrome using an Internet questionnaire,” Am. J. Health Syst. Pharm., 60, No. 24, 2583–2587 (2003), https://doi.org/10.1093/ajhp/60.24.2583.

    Article  PubMed  Google Scholar 

  17. C. Sugiura, K. Ogura, M. Ueno, et al., “High-dose ethosuximide for epilepsy in Angelman syndrome: implication of GABA(A) receptor subunit,” Neurology, 57, No. 8, 1518–1519 (2001), https://doi.org/10.1212/wnl.57.8.1518.

    Article  CAS  PubMed  Google Scholar 

  18. D. N. Franz, T. A. Glauser, C. Tudor, and S. Williams, “Topiramate therapy of epilepsy associated with Angelman’s syndrome,” Neurology, 54, No. 5, 1185–1188 (2000), https://doi.org/10.1212/wnl.54.5.1185.

    Article  CAS  PubMed  Google Scholar 

  19. M. Ruggieri and M. A. McShane, “Parental view of epilepsy in Angelman syndrome: a questionnaire study,” Arch. Dis. Child., 79, No. 5, 423–426 (1998), https://doi.org/10.1136/adc.79.5.423.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. J. R. Ostergaard and T. Balslev, “Efficacy of different antiepileptic drugs in children with Angelman syndrome associated with 15q11-13 deletion: the Danish experience,” Dev. Med. Child. Neurol., 43, No. 10, 718–719 (2001), https://doi.org/10.1017/s0012162201001293.

    Article  CAS  PubMed  Google Scholar 

  21. C. Kuenzle, M. Steinlin, G. Wohlrab, et al., “Adverse effects of vigabatrin in Angelman syndrome,” Epilepsia, 39, No. 11, 1213–1215 (1998), https://doi.org/10.1111/j.1528-1157.1998.tb01314.

    Article  CAS  PubMed  Google Scholar 

  22. K. M. L. Forrest, H. Young, R. C. Dale, et al., “Benefit of corticosteroid therapy in Angelman Syndrome,” J. Child Neurol., 24, No. 8, 952–958 (2009), https://doi.org/10.1177/0883073808331344.

    Article  PubMed  Google Scholar 

  23. A. Evangeliou, V. Doulioglou, K. Haidopoulou, et al., “Ketogenic diet in a patient with Angelman syndrome,” Pediatr. Int., 52, No. 5, 831–834 (2010), https://doi.org/10.1111/j.1442-200X.2010.03118.

    Article  PubMed  Google Scholar 

  24. O. R. Grocott, K. S. Herrington, H. H. Pfeifer, et al., “Low glycemic index treatment for seizure control in Angelman syndrome: A case series from the Center for Dietary Therapy of Epilepsy at the Massachusetts General Hospital,” Epilepsy Behav., 68, 45–50 (2017), https://doi.org/10.1016/j.yebeh.2016.12.018.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. St. Luke Institute of Child Neurology and Epilepsy, Troitsk, Moscow, Russia

    M. Yu. Bobylova, K. Yu. Mukhin, G. V. Kuzmich, L. Yu. Glukhova & O. A. Pylayeva

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  1. M. Yu. Bobylova
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  2. K. Yu. Mukhin
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  3. G. V. Kuzmich
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  4. L. Yu. Glukhova
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Correspondence to M. Yu. Bobylova.

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Translated from Zhurnal Nevrologii i Psikhiatrii imeni S. S. Korsakova, Vol. 122, No. 7, pp. 100–105, July, 2022.

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Bobylova, M.Y., Mukhin, K.Y., Kuzmich, G.V. et al. Epilepsy in Angelman’s Syndrome. Neurosci Behav Physi 53, 302–307 (2023). https://doi.org/10.1007/s11055-023-01425-5

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