scholarly journals Juvenile Myoclonic Epilepsy. Update

2020 ◽  
Vol 12 (1S) ◽  
pp. 41-49
Author(s):  
I. V. Volkov ◽  
O. K. Volkova

Juvenile myoclonic epilepsy (JME) is a common disease. However, some aspects of etiology and pathogenesis are not yet fully clarified. This publication describes the development of ideas about JME, the types of seizures that occur in JME, provides a list of triggering factors and a prognosis severity scale that depending on these triggering factors. The section on JME diagnostics discusses methods of neuroimaging, electroencephalography, and approaches to assessing the mental status of JME patients. The data of meta-analysis of prevalence and risk factors of refractory JME in the context of assessment of the disease state and prognosis are presented. The data on advantages and disadvantages of various Antiepileptic Drugs (AEDs) for the control of the disease are considered. The results of the own study of AED spectrum and effectiveness in gender-sensitive and ILAE-recommended therapy in adults, as well as the GENERAL study of perampanel efficacy and safety in patients with idiopathic generalized epilepsy, are presented. It confirmed the high efficacy of the perampanel primarily for  myoclonic seizures and generalized tonic-clonic seizures. A case study of a female patient with JME was also described, in which refractory to therapy was noted, including due to low compliance to the prescribed therapy.

2021 ◽  
Vol 1 (2) ◽  
pp. 2-20
Author(s):  
N. A. Shnayder ◽  
K. V. Petrov

Due to the high prevalence of the disease, its genetic and clinical heterogeneity, the need for lifelong therapy and the emergence of new views on the pathogenesis and course of JME, it is necessary to provide primary care physicians (general practitioners, district therapists, neurologists) with up-to-date systematized information about the most common form of genetic generalized epilepsy (Herpin-Janz syndrome). JME is a genetically determined disease of the brain, accompanied by a triad of seizures (absences, myoclonia, generalized tonic-clonic seizures), and developing mainly in adolescence and young age. In recent years, monogenic and multifactorial forms of JME have been identified, but questions about the genetics of JME are far from being resolved. JME is characterized by the preservation of intelligence, life expectancy with adequate therapy does not differ from the average population, but the frequency of failures of pharmaco-induced remission is high when taking anticonvulsants is canceled. This explains the need for lifelong pharmacotherapy, individual selection of anticonvulsants. About 30% of patients with JME have non-psychotic mental disorders, disorders of the sleep and wake cycle, which in turn leads to an aggravation of epileptic seizures mainly in the first half of the day. This review presents an analysis of full-text publications in Russian and English over the past five years in the databases eLibrary, PubMed, Web of Science, OxfordPress, Springer, and Clinicalkeys. In addition, the review includes earlier publications of historical significance.


2020 ◽  
Vol 106 ◽  
pp. 107038 ◽  
Author(s):  
Anna Smith ◽  
Marte Syvertsen ◽  
Deb K. Pal

2018 ◽  
Vol 26 (6) ◽  
pp. 856-864 ◽  
Author(s):  
R. Stevelink ◽  
B. P. C. Koeleman ◽  
J. W. Sander ◽  
F. E. Jansen ◽  
K. P. J. Braun

Author(s):  
Sudha Kilaru Kessler

The ketogenic diet (KD) is often considered as a treatment option for medication-resistant focal epilepsies and symptomatic generalized epilepsies, but is perhaps less commonly considered for idiopathic generalized epilepsies. The evidence for the use of the KD in two common idiopathic generalized epilepsy syndromes, childhood absence epilepsy and juvenile myoclonic epilepsy, is presented here.


2013 ◽  
Vol 106 (3) ◽  
pp. 370-377 ◽  
Author(s):  
Bei Cao ◽  
YingYing Tang ◽  
JianPeng Li ◽  
Xiang Zhang ◽  
Hui-Fang Shang ◽  
...  

PLoS ONE ◽  
2011 ◽  
Vol 6 (8) ◽  
pp. e23656 ◽  
Author(s):  
Libor Velíšek ◽  
Enyuan Shang ◽  
Jana Velíšková ◽  
Tamar Chachua ◽  
Stephania Macchiarulo ◽  
...  

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