scholarly journals Refractory juvenile myoclonic epilepsy: a meta‐analysis of prevalence and risk factors

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

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

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.


Author(s):  
Nicola Pietrafusa ◽  
Angela La Neve ◽  
Luca de Palma ◽  
Giovanni Boero ◽  
Concetta Luisi ◽  
...  

2021 ◽  
Vol 1 (2) ◽  
pp. 95-105
Author(s):  
O. S. Shilkina ◽  
S. N. Zobova ◽  
E. A. Domoratskaya ◽  
D. V. Dmitrenko

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.


2018 ◽  
Author(s):  
Gerhard Kurlemann ◽  
Jana Krois-Neudenberger ◽  
Oliver Schwartz ◽  
Beate Jensen ◽  
Jürgen Althaus ◽  
...  

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