| Popis: |
Approximately 40–70 % of all epilepsies are now estimated to have a genetic cause. Though most epilepsies are genetically complex, the past decade has seen an explosion of advances in genetic etiologies. Early gene discovery in epilepsy was limited to large families with milder, inherited monogenic epilepsies using linkage analysis. Newer techniques underlie the past decade’s accelerated gene discovery, especially in noninherited, severe epileptic encephalopathies, and have reinforced the diverse role of cellular functions that may be affected. This review examines recently discovered epilepsy genes and discusses the importance of a genetic diagnosis in patient care. |
