Display options
Cite
Wesół-Kucharska D, Rokicki D, Jezela-Stanek A. Epilepsy in Mitochondrial Diseases-Current State of Knowledge on Aetiology and Treatment. Children (Basel). 2021;8(7)doi: 10.3390/children8070532.
Wesół-Kucharska, D., Rokicki, D., & Jezela-Stanek, A. (2021). Epilepsy in Mitochondrial Diseases-Current State of Knowledge on Aetiology and Treatment. Children (Basel, Switzerland), 8(7), . https://doi.org/10.3390/children8070532
Wesół-Kucharska, Dorota, et al. "Epilepsy in Mitochondrial Diseases-Current State of Knowledge on Aetiology and Treatment." Children (Basel, Switzerland) vol. 8,7 (2021). doi: https://doi.org/10.3390/children8070532
Wesół-Kucharska D, Rokicki D, Jezela-Stanek A. Epilepsy in Mitochondrial Diseases-Current State of Knowledge on Aetiology and Treatment. Children (Basel). 2021 Jun 22;8(7). doi: 10.3390/children8070532. PMID: 34206602; PMCID: PMC8303198.
Copy Download .nbib Format: NLM
Share it on

Children (Basel). 2021 Jun 22;8(7). doi: 10.3390/children8070532.

Epilepsy in Mitochondrial Diseases-Current State of Knowledge on Aetiology and Treatment.

Children (Basel, Switzerland)

Dorota Wesół-Kucharska, Dariusz Rokicki, Aleksandra Jezela-Stanek

Affiliations

  1. Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04730 Warsaw, Poland.
  2. Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 26 Plocka Str, 01138 Warsaw, Poland.

PMID: 34206602 PMCID: PMC8303198 DOI: 10.3390/children8070532

Abstract

Mitochondrial diseases are a heterogeneous group of diseases resulting from energy deficit and reduced adenosine triphosphate (ATP) production due to impaired oxidative phosphorylation. The manifestation of mitochondrial disease is usually multi-organ. Epilepsy is one of the most common manifestations of diseases resulting from mitochondrial dysfunction, especially in children. The onset of epilepsy is associated with poor prognosis, while its treatment is very challenging, which further adversely affects the course of these disorders. Fortunately, our knowledge of mitochondrial diseases is still growing, which gives hope for patients to improve their condition in the future. The paper presents the pathophysiology, clinical picture and treatment options for epilepsy in patients with mitochondrial disease.

Keywords: antiepileptic drugs (AED); epilepsy; mitochondrial disorders; mtDNA; nDNA; treatment

References

  1. EBioMedicine. 2020 Apr;54:102730 - PubMed
  2. Epilepsia. 2010 Jul;51(7):1225-35 - PubMed
  3. Epilepsy Behav. 2019 Dec;101(Pt B):106546 - PubMed
  4. Mol Genet Metab. 2020 Sep - Oct;131(1-2):1-13 - PubMed
  5. Epileptic Disord. 2016 Sep 1;18(S2):94-102 - PubMed
  6. Front Neurol. 2019 May 08;10:496 - PubMed
  7. Nat Commun. 2021 Mar 26;12(1):1929 - PubMed
  8. Epilepsia. 2008 Apr;49(4):685-90 - PubMed
  9. Epilepsy Res. 2015 Oct;116:40-52 - PubMed
  10. Mol Genet Metab. 2012 Jan;105(1):34-43 - PubMed
  11. J Pathol. 2017 Jan;241(2):236-250 - PubMed
  12. Mol Diagn Ther. 2021 Mar;25(2):181-206 - PubMed
  13. Epilepsia. 2014 May;55(5):707-12 - PubMed
  14. Epilepsia. 2018 Oct;59 Suppl 2:70-77 - PubMed
  15. Orphanet J Rare Dis. 2018 Jul 19;13(1):120 - PubMed
  16. Ann Clin Transl Neurol. 2018 Feb 07;5(3):333-345 - PubMed
  17. Ther Adv Neurol Disord. 2020 Feb 6;13:1756286419897813 - PubMed
  18. Ann Neurol. 2004 Nov;56(5):662-9 - PubMed
  19. Neuropediatrics. 2008 Feb;39(1):8-13 - PubMed
  20. Sci Rep. 2018 Aug 8;8(1):11887 - PubMed
  21. Seizure. 2010 Apr;19(3):140-6 - PubMed
  22. Handb Exp Pharmacol. 2017;240:473-488 - PubMed
  23. Epilepsia. 2015 Nov;56(11):e176-81 - PubMed
  24. Neuropathol Appl Neurobiol. 2016 Feb;42(2):180-93 - PubMed
  25. Mol Genet Metab Rep. 2016 Apr 18;7:70-6 - PubMed
  26. Genet Med. 2017 Dec;19(12): - PubMed
  27. Biochim Biophys Acta Mol Basis Dis. 2018 May;1864(5 Pt A):1596-1608 - PubMed
  28. Expert Opin Pharmacother. 2019 Jul;20(10):1289-1297 - PubMed
  29. Eur J Paediatr Neurol. 2016 Nov;20(6):798-809 - PubMed
  30. Epilepsia. 2017 Apr;58(4):522-530 - PubMed
  31. Medicine (Baltimore). 2020 Jan;99(5):e18634 - PubMed
  32. J Inherit Metab Dis. 2019 Jul;42(4):581-597 - PubMed
  33. Arch Dis Child. 2017 Nov;102(11):1082-1090 - PubMed
  34. J Clin Med. 2020 Dec 29;10(1): - PubMed
  35. Mitochondrion. 2007 Feb-Apr;7(1-2):133-9 - PubMed
  36. Front Neurol. 2020 Dec 08;11:592514 - PubMed
  37. Biochem Soc Trans. 2018 Oct 19;46(5):1247-1261 - PubMed
  38. Ann Neurol. 2006 Feb;59(2):394-8 - PubMed
  39. Epilepsia. 2020 Oct;61(10):2224-2233 - PubMed
  40. Brain. 2006 Jul;129(Pt 7):1685-92 - PubMed
  41. Chin Med J (Engl). 2018 Oct 20;131(20):2433-2438 - PubMed
  42. J Inherit Metab Dis. 2020 Jul;43(4):726-736 - PubMed
  43. Neurogenetics. 2020 Apr;21(2):87-96 - PubMed
  44. Nat Rev Mol Cell Biol. 2012 Mar 22;13(4):251-62 - PubMed
  45. Eur J Pediatr. 2019 Jan;178(1):21-32 - PubMed
  46. Acta Neurol Scand. 2019 Sep;140(3):184-193 - PubMed
  47. Epilepsy Behav Case Rep. 2019 Feb 07;11:92-95 - PubMed
  48. Epilepsia Open. 2018 May 21;3(2):175-192 - PubMed
  49. Cochrane Database Syst Rev. 2020 Jun 24;6:CD001903 - PubMed
  50. Hum Mol Genet. 2010 May 15;19(10):1974-84 - PubMed
  51. Yonsei Med J. 2019 Jan;60(1):106-114 - PubMed
  52. Epilepsy Behav. 2015 Aug;49:71-5 - PubMed
  53. EBioMedicine. 2020 Jun;56:102784 - PubMed
  54. J Clin Med. 2017 May 26;6(6): - PubMed
  55. Eur J Paediatr Neurol. 2020 Jan;24:47-52 - PubMed
  56. J Clin Invest. 2020 Jan 2;130(1):20-28 - PubMed
  57. Pediatr Neurol. 2011 Sep;45(3):169-74 - PubMed
  58. Mol Genet Metab. 2015 Sep-Oct;116(1-2):4-12 - PubMed
  59. Neurology. 2002 Sep 24;59(6):816-24 - PubMed
  60. Epilepsia. 2012 Sep;53 Suppl 4:92-7 - PubMed
  61. Nat Med. 2010 Aug;16(8):869-71 - PubMed
  62. Ann Neurol. 2015 Dec;78(6):949-57 - PubMed
  63. Mol Genet Metab Rep. 2014 Oct 16;1:455-460 - PubMed
  64. Nutrients. 2020 Jun 17;12(6): - PubMed
  65. Genet Med. 2015 Sep;17(9):689-701 - PubMed
  66. J Inherit Metab Dis. 2020 Jul;43(4):800-818 - PubMed
  67. Dev Med Child Neurol. 2012 May;54(5):397-406 - PubMed
  68. J Cereb Blood Flow Metab. 2013 Jul;33(7):1115-26 - PubMed

Publication Types