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/10.17650/2073-8803-2018-13-1-57-63
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
Russian Federation
1 Partizan Zheleznyak St., Krasnoyarsk 660022
Russian Federation
1 Partizan Zheleznyak St., Krasnoyarsk 660022
N. A. Shnayder
Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky, Ministry of Health of Russia
Russian Federation
1 Partizan Zheleznyak St., Krasnoyarsk 660022
Russian Federation
1 Partizan Zheleznyak St., Krasnoyarsk 660022
I. P. Artyukhov
Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky, Ministry of Health of Russia
Russian Federation
1 Partizan Zheleznyak St., Krasnoyarsk 660022
Russian Federation
1 Partizan Zheleznyak St., Krasnoyarsk 660022
P. V. Moskaleva
Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky, Ministry of Health of Russia
Russian Federation
1 Partizan Zheleznyak St., Krasnoyarsk 660022
Russian Federation
1 Partizan Zheleznyak St., Krasnoyarsk 660022
Yu. S. Panina
Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky, Ministry of Health of Russia
Russian Federation
1 Partizan Zheleznyak St., Krasnoyarsk 660022
Russian Federation
1 Partizan Zheleznyak St., Krasnoyarsk 660022
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Review
For citations:
Shilkina O.S., Shnayder N.A., Artyukhov I.P., Moskaleva P.V., Panina Yu.S. Problems of differential diagnosis of myoclon us-epilepsy associated with the mutation of the POLG gene and juvenile myoclonic epilepsy: a clinical case. Russian Journal of Child Neurology. 2018;13(1):57-63. (In Russ.) https://doi.org/10.17650/2073-8803-2018-13-1-57-63
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