A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes
A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes
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DOI：
10.1212/01.wnl.0000069465.53698.bd
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发表时间：
2003-07-08
期刊：
影响因子：
9.9
通讯作者：
Taglialatela, M
中科院分区：
文献类型：
--
作者：
Coppola, G;Castaldo, P;Taglialatela, M
良性家族性新生儿惊厥 (BFNC) 患者可能会出现各种癫痫或癫痫相关的脑电图特征。在一名 BFNC 患者中发现编码 K+ 通道亚基的 KCNQ2 基因中存在杂合 1 碱基对缺失 (2043DeltaT)，该患者在 3 岁时表现出中央颞区尖峰。电生理学研究表明，突变的 K+ 通道亚基在与 KCNQ2/KCNQ3 亚基一起表达时，无法产生功能性同聚通道或发挥显性负效应。
Patients with benign familial neonatal convulsions (BFNC) may develop various epilepsies or epilepsy-associated EEG traits. A heterozygous 1-base pair deletion (2043DeltaT) in the KCNQ2 gene encoding for K+ channel subunits was found in a patient with BFNC who showed centrotemporal spikes at age 3 years. Electrophysiologic studies showed that mutant K+ channel subunits failed to give rise to functional homomeric channels or exert dominant-negative effects when expressed with KCNQ2/KCNQ3 subunits.