Epilepsies associated with KCNQ2 : A spectrum of disorders
10.3760/cma.j.issn.1008-1372.2017.08.004
- VernacularTitle:KCNQ2基因相关癫痫:一种谱系疾病
- Author:
Xiaoxuan QU
;
Han XIE
;
Yuwu JIANG
- Keywords:
KCNQ2 potassium channel;
Epilepsy;
Review
- From:
Journal of Chinese Physician
2017;19(8):1134-1138
- CountryChina
- Language:Chinese
-
Abstract:
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.
