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FREQUENCY OF CLINICAL PHENOTYPES OF JUVENILE MYOCLONIC EPILEPSY: PILOT STUDY IN SIBERIAN FEDERAL DISTRICT

https://doi.org/10.17749/2077-8333.2016.8.3.027-033

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Abstract

Objective.   The analysis of the frequency of occurrence of clinical phenotypes of JME among residents  of the Siberian Federal District (Russia).

Materials  and  Methods.  80 patients with JME underwent preliminary anamnestic  and clinical selection  using  stratified randomization.  After verification of  their diagnosis,  patients  were  grouped  based  on  the phenotype  classification proposed  by Martínez-Juárez  et al (2006).  Gender was also noted  for subsequent  genderrelated analysis.

Results.   The incidence of JME among males was lower than among females.  In general, the average JME onset age was characteristic for this clinical form of idiopathic generalized epilepsy. Furthermore, JME onset age in males  was higher than in females.  In general, the most  frequent phenotype  was the classical Type I phenotype.  The frequency  of Type I  occurrence  in males  was  significantly higher than that in females.  Type II,  the  least  favorable phenotype  in terms  of stable pharmacological remission,  occurred 3.5 times  less  frequently  in  males  compared  to females.  Types III and IV did not reveal significant gender-related differences. 

Conclusions. The results allow to revise the initial diagnosis of JME in burdened families: we recommend video-EEG monitoring in adolescent female patients at a younger age, with mandatory testing of levels of consciousness during induced stress. Higher frequency of Type II JME in females  suggests imminent  need for dynamic and lengthy video-EEG monitoring to exclude the chance of pseudo remission, before a decision can be made about reduction or termination of AEDs.

About the Authors

N. A. Shnayder
Krasnoyarsk State Medical University named after Professor V. F. Voino-Yasenetsky
Russian Federation

Shnayder Natalia Alekseyevna – MD, Prof., head of the Department of Medical Genetics and Clinical Neurophysiology of the Postgraduate Education Institute, head of the Neurological Center of Epileptology, Neurogenetics and Brain Research.

Ul. Karla Marksa, 124, Krasnoyarsk, Krasnoyarsk region, Siberian Federal District, Russia, 660021. tel.: +7 (391) 201-65-24.  E-mail: NASchnaider@yandex.ru



O. S. Shilkina
Krasnoyarsk State Medical University named after Professor V. F. Voino-Yasenetsky
Russian Federation

Shilkina Olga Sergeevna – researcher of the department of medical genetics and clinical neurophysiology of the Postgraduate Education Institute, neurologist of the neurological center of epileptology, neurogenetics and brain research.

ul. Karla Marksa, 124, Krasnoyarsk, Krasnoyarsk region, Siberian Federal District, Russia, 660021. tel.: +7(391)2215356.  E-mail: olgabbn@mail.ru



K. V. Petrov
Krasnoyarsk State Medical University named after Professor V. F. Voino-Yasenetsky
Russian Federation

Petrov Kirill Vladimirovich – medical student of the pediatric faculty.

Ul. Karla Marksa, 124, Krasnoyarsk,  Krasnoyarsk  region,  Siberian Federal District, Russia, 660021. tel.: +7(391)2215356.  E-mail: kirya23petrov@mail.ru

 



A. V. Duyzhakova
Krasnoyarsk State Medical University named after Professor V. F. Voino-Yasenetsky
Russian Federation

Duyzhakova Anna Vladislavna – medical student of the therapeutic faculty.

Ul. Karla Marksa, 124, Krasnoyarsk, Krasnoyarsk region, Siberian Federal District, Russia, 660021. tel.:  +7(391)2215356.  E-mail: humsterzoa@gmail.com



N. A. Marueva
Krasnoyarsk State Medical University named after Professor V. F. Voino-Yasenetsky; Chita State Medical Academy
Russian Federation

Marueva Natalia Aleksandrovna – PhD, assistant of the department  neurology, neurosurgery  and medical genetics, the Chita State  Medical University Address: ul. Gorkogo, 39А, Chita, Russia,  672090; postdoc-student of the department  of medical genetics and clinical neurophysiology of the Postgraduate Education Institute, KSMU, ul. Karla Marksa, 124, Krasnoyarsk, Krasnoyarsk region, Siberian Federal District, Russia, 660021. tel.: +7(924)2962345.  е-mail: maruevana@mail.ru



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For citation:


Shnayder N.A., Shilkina O.S., Petrov K.V., Duyzhakova A.V., Marueva N.A. FREQUENCY OF CLINICAL PHENOTYPES OF JUVENILE MYOCLONIC EPILEPSY: PILOT STUDY IN SIBERIAN FEDERAL DISTRICT. Epilepsia and paroxysmal conditions. 2016;8(3):27-33. (In Russ.) https://doi.org/10.17749/2077-8333.2016.8.3.027-033

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ISSN 2077-8333 (Print)
ISSN 2311-4088 (Online)