摘要PRRT2基因是发作性运动诱发性运动障碍(paroxysmal kinesigenic dyskinesias,PKD)、良性家族性婴儿癫痫(benign familial infantile seizures,BFIS)和婴儿惊厥伴发作性手足舞蹈徐动征(infantile convulsions with paroxysmal choreoathetosis,ICCA)的主要致病基因,在多种神经系统发作性疾病中也发现了该基因的致病突变.PRRT2突变导致的疾病由于源于同一致病基因可能具有一些共性,为了方便该类疾病的临床及科学研究、指导治疗和评估预后,PRRT2相关发作性疾病(PRRT2-related paroxysmal disorders,PRPDs)这一临床疾病谱概念应运而生.拟对PRRT2相关发作性疾病的临床表型、发病机制、共有特点及意义等研究进行综述,以阐明这一临床疾病谱内疾病的发病机制,为疾病的诊断和治疗提供帮助.

abstractsProline-rich transmembrane protein 2 (PRRT2),the causative gene of paroxysmal kinesigenic dyskinesias (PKD),benign familial infantile seizures (BFIS) and infantile convulsions with paroxysmal choreoathetosis (ICCA),also causes a variety of neurological paroxysmal disorders.These diseases share the same characteristics which may be due to the same genetic defect.We therefore propose to name them as PRRT2-related paroxysmal disorders (PRPDs) in order to assist clinical diagnosis,treatment and prognosis.This paper has reviewed the clinical phenotype,common features and pathogenesis of the PRPDs.