摘要: Epilepsy is characterized by uncontrolled, abnormal firing of neurons in the central nervous system (CNS). This phenomenon of neuronal hyperexcitability is recurrent and frequently associated with behavioral manifestations referred to as seizures. In specific instances it is known that seizures may be caused by developmental anomalies, enzyme deficiencies, or traumatic brain injury. But more often they are idiopathic. In general, seizure disorders are a heterogeneous group with diverse etiologies.The molecular and cellular mechanisms underlying the initiation and propagation of seizure activity are not well understood. From a systems perspective, seizures result from a loss of function (disinhibition) or gain of function (excitation), and these alterations may occur in discrete brain regions, especially neocortical and limbic structures. Feedback control of neuronal circuitry and the ability of the seizure focus to spread by recruiting additional neurons may also play a role. Each of these factors is influenced by genetic variation, and a number of studies have now revealed genetic contributions to specific seizure phenotypes in humans. The clinical heterogeneity associated with epilepsy is reflected by a broad range of phenotypes. This may be matched by a high degree of genetic variability, as several seizure syndromes have now been characterized as having more than one genetic susceptibility factor. The many different forms of epilepsy that exist and the multiple genetic influences that may cause or influence any particular form combine to make it difficult to collect the appropriate numbers of well-defined patients with similar phenotypes required to …