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

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.

Keywords

• idiopathic generalized epilepsy
• juvenile myoclonic epilepsy
• jme
• janz syndrome
• clinics
• sub-syndrome
• phenotype
• phenotyping
• diagnosis
• prognosis