Email this article Problems of differential diagnosis of myoclon us-epilepsy associated with the mutation of the POLG gene and juvenile myoclonic epilepsy: a clinical case
- Authors: Shilkina O.S.1, Shnayder N.A.1, Artyukhov I.P.1, Moskaleva P.V.1, Panina Y.S.1
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Affiliations:
- Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky, Ministry of Health of Russia
- Issue: Vol 13, No 1 (2018)
- Pages: 57-63
- Section: CLINICAL OBSERVATIONS
- Published: 10.04.2018
- URL: https://rjdn.abvpress.ru/jour/article/view/249
- DOI: https://doi.org/10.17650/2073-8803-2018-13-1-57-63
- ID: 249
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Abstract
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.
About the authors
O. S. Shilkina
Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky, Ministry of Health of Russia
Author for correspondence.
Email: Olga.s.shilkina@mail.ru
1 Partizan Zheleznyak St., Krasnoyarsk 660022 Russian Federation
N. A. Shnayder
Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky, Ministry of Health of Russia
Email: fake@neicon.ru
1 Partizan Zheleznyak St., Krasnoyarsk 660022 Russian Federation
I. P. Artyukhov
Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky, Ministry of Health of Russia
Email: fake@neicon.ru
1 Partizan Zheleznyak St., Krasnoyarsk 660022 Russian Federation
P. V. Moskaleva
Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky, Ministry of Health of Russia
Email: fake@neicon.ru
1 Partizan Zheleznyak St., Krasnoyarsk 660022 Russian Federation
Yu. S. Panina
Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky, Ministry of Health of Russia
Email: fake@neicon.ru
1 Partizan Zheleznyak St., Krasnoyarsk 660022 Russian Federation
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