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KCNQ2基因相关癫痫是一种谱系疾病,KCNQ2突变可导致从最重的早发癫痫脑病到最轻的家族性新生儿癫痫等多种临床表型.KCNQ2基因突变的类型及位点分布可能与临床表型相关联,此可为临床诊疗中进行预后判断提供线索.不同突变可导致不同程度的KCNQ2蛋白表达量减少、钾离子通道分布异常或电流减少,这可能是同一基因(KCNQ2)的突变导致不同临床表型的产生机制.近期研究还发现KCNQ2突变可能通过增强钾离子通道电流而引发癫痫,这还需要更多的后续研究去证实.

Epilepsies associated with KCNQ2 are a spectrum of disorders,and KCNQ2 mutations lead to a variety of phenotypes from the severest to the mildest,from early onset epileptic encephalopathy (EOEE) to benign familial neonatal convulsion (BFNC).The type and the position of KCNQ2 mutations may be associated with phenotypes,and provide a clue for assessing prognosis.KCNQ2 mutations lead to the reduced protein expression,abnormal distribution of potassium channels or decreased currents of potassium channels.It is the potential mechanism that KCNQ2 mutations cause different phenotypes.Recent studies have also found that KCNQ2 mutations may trigger seizures by enhancing potassium channel currents;however it needs further studies to verify.