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
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. ShnayderRussian 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
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
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
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
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
References
1. Karlov V. A. Epilepsy in children and adults, women and men. Guide for physicians. [Epilepsiya u detei i vzroslykh zhenshchin i muzhchin. Rukovodstvo dlya vrachei (in Russian)]. Moscow. 2010; 720.
2. Kritskaya Yu.A., Shnayder N. A., Shirshov Yu.A. Epilepsiya i paroksizmal’nye rasstroistva. 2012; 4 (1): 23-28.
3. Marueva N. A., Shnayder N. A., Shulmin A. V. Zabaikal’skii meditsinskii vestnik. 2015; 2: 119-128.
4. Mironov M. B. Factors of risk and frequency of relapses for patients juvenile idiopathic generalized forms of epilepsy. PhD diss. [Faktory riska i chastota retsidivov u bol’nykh yunosheskimi formami idiopaticheskoi generalizovannoi epilepsii. Diss. kand. med. nauk. (in Russian)]. Moscow. 2005; 119.
5. Mukhin K. Yu., Petrukhin A. S. Idiopathic forms of epilepsy: systematics, diagnosis, therapy [Idiopaticheskie formy epilepsii: sistematika, diagnostika, terapiya (in Russian)]. Moscow. 2000; 319.
6. Shnayder N. A., Shapovalova E. A., Dmitrenko D. V. Sibirskoe meditsinskoe obozrenie. 2012; 74 (2): 44-50.
7. Delgado-Escueta A.V., Greenberg DA, Treiman L. et al. Mapping the gene for juvenile myoclonic epilepsy. Epilepsia. 1989; 30 (4): 8-18.
8. Dmitrenko D. V., Shnayder N. A., Kiselev I. A., et al. Problems of rational therapy for epilepsy during pregnancy. Open Journal of Obstetrics and Gynecology. 2014; 4 (9): 506-515.
9. Greenberg D. A., Delgado-Escueta A.V., Maldonado H. M., Widelitz H. Segregation analysis of juvenile myoclonic epilepsy. Genetic epidemiology. 1988; 5 (2): 81-94.
10. Janz D. Epilepsy with impulsive petit mal (juvenile myoclonic epilepsy). Acta Neurologica Scandinavica. 1985; 72 (5): 449-459.
11. Janz D. Juvenile myoclonic epilepsy. Cleveland Clinic journal of medicine. 1989; 56: 23-33.
12. Koepp M. J., Hamandi K. Systems and Networks in Myoclonic Seizures and Epilepsies in Generalized Seisures: From Clinical Libbey J. Phenomenology to Underlying Systems and Networks. Montrouge. France: Eurotext. 2006; 163-182.
13. Martínez-Juárez I.E., Alonso M. E., Medina M. T., et al. Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up. Brain. 2006; 129 (5): 1269-1280.
14. Meencke H. J., Veith G. The relevance of slight migrational disturbances (microdysgenesis) to the etiology of the epilepsies. Advances in Neurology. 1999; 79 (3); 123-131.
15. Shnayder N. A., Dmitrenko D. V., Sadykova A. V. et al. Epidemiological studies on epilepsy in Siberia. Medical and Health Science Journal. 2011; 6: 35-42.
16. Woermann F. G., Free S. L., Koepp M. J., et al. Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI. Brain. 1999; 122 (11): 2101-2109.
17. Wolf P. Juvenile myoclonic epilepsy. In: J. Roger, M. Bureau, Ch. Dravet et al. (eds.) Epileptic syndromes in infancy, childhood and adolescence. Paris. 1992; 316-327.
Review
For citations:
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. Epilepsy 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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