Frequency of Juvenile Myoclonic Epilepsy Clinical Phenotypes in Siberia  

作　　者：Olga S. Shilkina Kirill A. Petrov Anna V. Diuzhakova Natalia A. Marueva Natalia A. Shnayder Olga S. Shilkina;Kirill A. Petrov;Anna V. Diuzhakova;Natalia A. Marueva;Natalia A. Shnayder(The Voyno-Yasenetsky Krasnoyarsk State Medical University of the Health Ministry of Russia, Krasnoyarsk, Russia;The Chita State Medical Academy of the Health Ministry of Russia, Chita, Russia)

机构地区：[1]The Voyno-Yasenetsky Krasnoyarsk State Medical University of the Health Ministry of Russia, Krasnoyarsk, Russia [2]The Chita State Medical Academy of the Health Ministry of Russia, Chita, Russia

出　　处：《World Journal of Neuroscience》2016年第1期32-36,共5页神经科学国际期刊（英文）

摘　　要：Juvenile myoclonic epilepsy (JME) is characterised by myoclonia during awakening, generalised tonic-clonic seizures, typical absences and usually presents for the first time at the age of 12 to 18 years old. This article describes the results of a clinical study into JME phenotypes in patients living in the Siberian Federal District. We have shown that the incidence of JME among males was lower than among females (1:1.9) and JME debut age for males was higher than in those women. Classical phenotype of JME (Type I) was dominant and more common in males compared to females—70.4% vs. 58.5%, respectively. The JME phenotype with worse prognosis in terms of achieving stable clinical remission (Type II) occurred 3.5 times more frequently among female patients compared to male (13.2% vs. 3.7% respectively). The findings resulting from this study give a deeper insight into the diagnosis and prognosis of this form of idiopathic generalised epilepsy in predisposed families.Juvenile myoclonic epilepsy (JME) is characterised by myoclonia during awakening, generalised tonic-clonic seizures, typical absences and usually presents for the first time at the age of 12 to 18 years old. This article describes the results of a clinical study into JME phenotypes in patients living in the Siberian Federal District. We have shown that the incidence of JME among males was lower than among females (1:1.9) and JME debut age for males was higher than in those women. Classical phenotype of JME (Type I) was dominant and more common in males compared to females—70.4% vs. 58.5%, respectively. The JME phenotype with worse prognosis in terms of achieving stable clinical remission (Type II) occurred 3.5 times more frequently among female patients compared to male (13.2% vs. 3.7% respectively). The findings resulting from this study give a deeper insight into the diagnosis and prognosis of this form of idiopathic generalised epilepsy in predisposed families.

关 键 词：Idiopathic Generalised Epilepsy Juvenile Myoclonic Epilepsy JME Janz Syndrome CLINIC PHENOTYPE PHENOTYPING Diagnosis PROGNOSIS 

分 类 号：R74[医药卫生—神经病学与精神病学]