Mechanisms, genetics, and pathogenesis of juvenile myoclonic epilepsy

作者：Zifkin B; Andermann E; Andermann F^*

来源：Current Opinion in Neurology, 2005, 18(2): 147-153.

DOI：10.1097/01.wco.0000162856.75391.b1

• epileptogenesis
• genetics of epilepsy
• idiopathic generalized epilepsy
• juvenile myoclonic epilepsy
• reflex seizures

Purpose of review This review addresses the mechanisms, genetics and pathogenesis of juvenile myoclonic epilepsy (JME, Janz syndrome).
Recent findings Although JME is a well defined clinical syndrome among the idiopathic generalized epilepsies (IGEs), recent studies suggest that JME is distinct from other IGE syndromes and must be considered separately fro the purposes of genetic studies. Clinical morphological and metabolic data suggest a preferential role for frontal regions in this syndrome. However, JME is clinically and genetically heterogeneous. Although several major genes for JME have been identified and pathogenetic mechanisms suggested based on these findings, these genes account for only a small proportion of JME cases, suggesting multifactorial or complex inheritance in most. The roles played by other major genes, susceptibility genes and environmental factors in the pathogenesis of JME remain to be defined.
Summary JME is clinically and genetically heterogeneous and should be considered separately from other IGE syndromes. Proposed mechanisms, such as those involving microdysgenesis or altered neuronal inhibition, may be related to different genetic abnormalities in different patients. Major genes account for relatively few cases, and most cases appear to involve multifactorial or complex inheritance.

• 出版日期2005-4