Kv7通道与良性家族性新生儿惊厥的研究进展  

Research Progression of Kv7 and Benign Familial Neonatal Convulsions

作　　者：李明泉[1] 陈光辉[1] 

机构地区：[1]南京大学医学院临床学院南京军区南京总医院神经内科,210002

出　　处：《中国临床神经科学》2010年第6期656-661,共6页Chinese Journal of Clinical Neurosciences

摘　　要：良性家族性新生儿惊厥(BFNC)是一种与钾离子通道基因变异有关,出生后早期发病,并很快自发缓解的良性病程。至2004年,在BFNC患者家族中已发现38种KCNQ2基因突变类型和2种KCNQ3基因突变类型。此外,Medline数据库近5年收录文献中,发现的KCNQ2、KCNQ3基因新发突变类型分别为14种和3种。KCNQ2/3基因突变可造成BFNC或BFNC合并外周神经高兴奋性(PNH);在BFNC家族中除发现与该疾病相关的基因突变为KCNQ2/3,尚发现突变位点、类型存在差异。本文分别对KCNQ2、KCNQ3与BFNC关系的研究进展进行综述。Benign familial neonatal convulsions（BFNC） are benign courses with spontaneous remission during the early life and related to mutations in the voltage-gated potassium ion channels（KCN） KCNQ2 and KCNQ3. By 2004, 38 and 2 mutations in KCNQ2 and KCNQ3 have been found respectively. There were 14 and 3 mutations in KCNQ2 and KCNQ3 investigated in the last five years according MEDLINE database. Mutations in KCNQ2/3 genes have been found to be etiologies of BFNC disease and BFNC complicating peripheral nerve hyperexcitability （BFNC＋PNH）. Specifically, all patients with BFNC were found have mutations in KCNQ2/3 genes, but there were difference in mutation sites and types. The great achivements in genetics researches of BFNC were valuable as references and guidelines for other types of idiopathic epilepsies. The advances on studies about KCNQ2 and KCNQ3 mutations in BFNC families/patients according to the results which searched from MEDLINE database from 2005 to 2010 were discussed.

关 键 词：良性家族性新生儿惊厥 KCNQ2 KCNQ3 突变 

分 类 号：R742.1[医药卫生—神经病学与精神病学]