Whole-genome sequencing in multiplex epilepsy families. Homo sapiens

Epilepsy is one of the most common neurologic disorders, affecting approximately 4% of individuals at some time in their lives. More than 30% of people with epilepsy continue to have seizures despite treatment, and improved approaches to treatment and prevention are sorely needed. In the search for new strategies to reduce the burden of disease, the discovery of specific genes that influence risk offers a novel opportunity to clarify pathogenic mechanisms, identify susceptible individuals prior to seizure onset, and treat and prevent seizures in people at risk. Despite clear evidence of the importance of genetics in susceptibility to epilepsy, only limited progress has been made in identifying the specific genes that influence risk. One of the greatest challenges for genetic research on this disorder is its extreme clinical and genetic heterogeneity. Although epilepsy is broadly defined by recurrent unprovoked seizures, it is so variable in its clinical... (for more see dbGaP study page.)

癫痫是最为常见的神经系统疾病之一，约有4%的人群在其一生中的某一阶段曾罹患此病。超过30%的癫痫患者即便接受规范治疗，仍会反复出现痫性发作，因此亟需开发更优化的治疗与预防方案。在探索减轻疾病负担的新策略过程中，发现影响癫痫发病风险的特定基因，为阐明致病机制、在痫性发作前识别易感个体，以及对高危人群开展治疗与痫性发作预防工作提供了全新的契机。尽管已有明确证据表明遗传因素在癫痫易感性中发挥关键作用，但目前在定位影响发病风险的特定基因方面仅取得了有限进展。该疾病的遗传研究面临的核心挑战之一，便是其极强的临床与遗传异质性。虽然癫痫的宽泛定义为反复发作的无诱因痫性发作，但其临床表现具有高度多样性……（更多详情请参阅dbGaP研究页面）