Walsh L E, McCandless D
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202, USA.
Semin Pediatr Neurol. 2001 Sep;8(3):165-76. doi: 10.1053/spen.2001.26450.
Epilepsy may be acquired or inherited. At least one half of epilepsy is genetic in origin; this figure is likely higher in children regardless of whether seizures are generalized or partial. Inherited epilepsies are classified as benign, cryptogenic, or symptomatic depending on associated clinical, electrographic, and neuroimaging features. To date, genetic mutations in the idiopathic inherited epilepsies affect channel function within the central nervous system; genes underlying symptomatic epilepsies are more heterogeneous. Accurate diagnosis of an inherited epilepsy syndrome provides useful prognostic information; it also may help guide diagnostic evaluation, including request for specific gene testing. In the near future, the relationship between genetic defect and response to specific anticonvulsants may also be better defined.
癫痫可能是后天获得的或遗传的。至少一半的癫痫起源于遗传；无论发作是全身性还是部分性，这一数字在儿童中可能更高。根据相关的临床、脑电图和神经影像学特征，遗传性癫痫可分为良性、隐源性或症状性。迄今为止，特发性遗传性癫痫中的基因突变影响中枢神经系统内的通道功能；症状性癫痫的相关基因更为多样。准确诊断遗传性癫痫综合征可提供有用的预后信息；它还可能有助于指导诊断评估，包括要求进行特定的基因检测。在不久的将来，遗传缺陷与对特定抗惊厥药物反应之间的关系也可能得到更好的明确。
