Русский журнал детской неврологии. 2018; 13: 57-63
Проблемы дифференциальной диагностики миоклонус-эпилепсии, ассоциированной с мутацией гена POLG, и юношеской миоклонической эпилепсии: клинический случай
https://doi.org/10.17650/2073-8803-2018-13-1-57-63Аннотация
Мутации гена POLG могут приводить к целому ряду клинических проявлений, в том числе к аутосомно-рецессивным или аутосомно-доминантным митохондриальным заболеваниям. В статье представлен клинический случай, демонстрирующий сложность дифференциальной диагностики POLG-ассоциированного заболевания и юношеской миоклонической эпилепсии. Показана важность проведения молекулярно-генетического исследования при атипичных чертах идиопатических генерализованных эпилепсий с целью своевременного назначения соответствующей терапии и минимизации развития нежелательных побочных реакций.
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Russian Journal of Child Neurology. 2018; 13: 57-63
Problems of differential diagnosis of myoclon us-epilepsy associated with the mutation of the POLG gene and juvenile myoclonic epilepsy: a clinical case
https://doi.org/10.17650/2073-8803-2018-13-1-57-63Abstract
Mutations of POLG gene can cause a variety of clinical manifestations, including autosomal recessive or autosomal dominant mitochondrial diseases. The article presents a clinical case demonstrating the difficulty of differential diagnosis of POLG-associated disease and juvenile myoclonic epilepsy. The case demonstrates the importance of molecular genetic diagnosis in idiopathic generalized epilepsy with atypical features for timely administration of appropriate therapy and minimize the development of adverse side reactions.
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7. Engelsen B.A., Tzoulis C., Karlsen B. et al. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 2008;131(Pt 1):818–28. DOI: 10.1093/ brain/awn007. PMID: 18238797.
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14. Ryan M.T., Hoogenraad N.J. Mitochondrial-nuclear communications. Annu Rev Biochem 2007;(76):701–22. DOI: 10.1146/annurev.biochem.76.052305.091720. PMID: 17227225.
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18. Winterthun S., Ferrari G., He L. et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase-gamma mutations. Neurology 2005;64(7):1204–8. DOI: 10.1212/01. WNL.0000156516.77696.5A. PMID: 15824347.
