TITLE:
Frequency of Juvenile Myoclonic Epilepsy Clinical Phenotypes in Siberia
AUTHORS:
Olga S. Shilkina, Kirill A. Petrov, Anna V. Diuzhakova, Natalia A. Marueva, Natalia A. Shnayder
KEYWORDS:
Idiopathic Generalised Epilepsy, Juvenile Myoclonic Epilepsy, JME, Janz Syndrome, Clinic, Phenotype, Phenotyping, Diagnosis, Prognosis
JOURNAL NAME:
World Journal of Neuroscience,
Vol.6 No.1,
February
15,
2016
ABSTRACT: 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.