Abstract
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.
Highlights
The share of juvenile myoclonic epilepsy (JME) is 5-10% of all cases of epilepsy in children and adolescents and 20-27% of all forms of genetic generalized epilepsy (GGE) [1,2,3,4,5,6]
That pharmacy induced remission is achieved in 80-90% of cases of JME, the recurrence rate associated with withdrawal of antiepileptic drugs (AEDs) is still high
It is believed that the carriage of the variant of one of the Mendelian genes is enough to inherit a particular phenotype of JME [12]
Summary
The share of juvenile myoclonic epilepsy (JME) is 5-10% of all cases of epilepsy in children and adolescents and 20-27% of all forms of genetic generalized epilepsy (GGE) [1,2,3,4,5,6]. That pharmacy induced remission is achieved in 80-90% of cases of JME, the recurrence rate associated with withdrawal of antiepileptic drugs (AEDs) is still high. This is a socially and clinically significant feature of epilepsy and a concern of modern neurology, despite the emergence of new AED generations [7,8,9]. 9 chromosomal loci associated with JME are identified (Mendelian Inheritance in Man - OMIM, 2017) [14]. 11 JME-associated loci are mentioned [12], but not in all of that genes are identified and not for all of them the type of inheritance is specified.
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