Studies on molecular genetic aspects of idiopathic generalized epilepsies

Abstract

Epilepsy is a group of chronic neurological conditions characterized by usually unprovoked, recurrent epileptic seizures. Seizures represent the clinical manifestations resulting from abnormal, excessive and hypersynchronous activity of neurons in the brain. Epileptic seizures are usually intermittent, self-limited and occur with or without loss of consciousness. Modern day concepts of epilepsy originated in the mid-19th century with important contributions from John Hughlings Jackson (Jackson, 1931). His work established the concept of different seizure types in epilepsies, each with its own physiology and semiology and laid the foundation for a scientific approach to the study of epilepsies. International League Against Epilepsy (ILAE) established a standardized classifications and terminology for epileptic seizures and syndromes. For the first time in 1981, a classification of epileptic seizures based on clinical semiology, electroencephalogram (EEG) findings and ictal patterns (Commission on Classification and Terminology of the International League Against Epilepsy, 1981), which divided epileptic seizures into two broad groups: partial and generalized, was introduced. Partial (or focal) seizures, which begin in a localized brain region, are again subdivided into simple partial seizures or complex partial seizures depending upon whether consciousness is impaired or not during a seizure episode. Generalized seizures, which involve the entire brain from the outset, include absence seizures, myoclonic seizures and generalized tonic clonic seizures (GTCS).