局灶性皮质发育不良是癫痫的一个病因：相关基因的现有证据和未来的治疗方法
Focal cortical dysplasia as a cause of epilepsy: the current evidence of associated genes and future therapeutic treatments
摘要：
局灶性皮质发育不良（FCD）是影响儿科人群的难治性癫痫的最常见原因。大多数FCD患者在生命的前五年内发作癫痫发作，大多数人在十六岁时发作癫痫发作。许多FCD病例被认为是子宫内异常脑发育的结果，通过在皮质生成期间调节神经元生长和迁移的种系或体细胞基因突变。其他FCD病例被认为与大脑发育期间的感染有关，甚至其他原因仍然无法完全确定。典型的抗癫痫药物在FCD中通常无效，并且由于涉及大脑的功能区或致癫痫灶的切除不足而无法成功进行手术，这对医生构成了挑战。FCD的遗传性质为药物开发提供了一条途径，在过去的二十年中，有几个遗传和分子靶点正在进行研究。
英文摘要：
Focal cortical dysplasias (FCDs) are the most common cause of treatment resistant epilepsy affecting the pediatric population. Most individuals with FCD have seizure onset during the first five years of life and the majority will have seizures by the age of sixteen. Many cases of FCD are postulated to be the result of abnormal brain development in utero by germline or somatic gene mutations regulating neuronal growth and migration during corticogenesis. Other cases of FCD are thought to be related to infections during brain development, or even other causes still unable to be fully determined. Typical anti-seizure medications are oftentimes ineffective in FCD as well as surgery is unable to be successfully performed due to the involvement of eloquent areas of the brain or insufficient resection of the epileptogenic focus, posing a challenge for physicians. The genetic nature of FCD provides an avenue for drug development with several genetic and molecular targets undergoing study over the last two decades.
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