ppanPersonalized Psychiatry and NeurologyPersonalized Psychiatry and Neurology2712-9179V. M. Bekhterev National Medical Research Centre for Psychiatry and Neurology of the Ministry of Health of the Russian Federation (Bekhterev NMRC PN)10.52667/2712-9179-2021-1-2-95-105ppan-25Research ArticleARTICLEClinical and genetic characteristics of juvenile myoclonic epilepsyShilkinaO. S.

Olga S. Shilkina

660022 Krasnoyarsk

olgabbn@mail.ruZobovaS. N.

Svetlana N. Zobova

660022 Krasnoyarsk

snzobova80@gmail.comDomoratskayaE. A.

Ekaterina A. Domoratskaya

660022 Krasnoyarsk

e.domorats@yandex.ruDmitrenkoD. V.

Diana V. Dmitrenko

660022 Krasnoyarsk

mart2802@yandex.ruV.F. Voino-Yasenetsky Krasnoyarsk State Medical UniversityRussian Federation2021141120211295105Copyright © Shilkina O.S., Zobova S.N., Domoratskaya E.A., Dmitrenko D.V., 20212021Shilkina O.S., Zobova S.N., Domoratskaya E.A., Dmitrenko D.V.Shilkina O.S., Zobova S.N., Domoratskaya E.A., Dmitrenko D.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.jppn.ru/jour/article/view/25

Juvenile myoclonic epilepsy (JME) is reported as a clinically and genetically heterogeneous disease with a high risk of inheritance. The aim of the study was to establish phenotype features and genetic risk factors for juvenile myoclonic epilepsy to advance existing approaches of prevention, treatment, and observation of patients with JME. Methods: anamnestic; clinical; neurophysiological (EEG); neuroradiological (MRI), neuropsychological; laboratory (DNA-diagnostics). JME starts with absences more frequently in females as compared to males (32.0% vs. 15.4%), and with GTCS and myoclonic in males as compared to females (46.2% and 36.5% vs. 36.0% and 31.2%, respectively). The 1st phenotype of JME was more frequently encountered in male individuals in comparison with female ones (55.8% vs. 34.7%), and the 2nd phenotype was more frequently encountered in female individuals in comparison with male ones (16.9% vs. 5.8%). Homozygous carriage of the T allele of the GJD2 gene (rs3743123) was associated with the development of JME in the study population, OR = 2.66 (95% CI 1.24 to 5.74). 41.5% of patients with JME have a slow metabolizer pharmacogenetic status, which is a risk factor for pseudo-pharmacoresistance and the development of adverse drug reactions.

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The authors declare that there are no conflicts of interest present.