提示
唐北沙
-
56浏览
-
0点赞
-
0收藏
-
0分享
-
117下载
-
0评论
-
引用
期刊论文
A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family
Journal of the Neurological Sciences 221(2004)31-34，-0001，（）：
Benign familial neonatal convulsions (BFNC) are a rare autosomal dominant inherited epilepsy syndrome. Two voltage-gated potassium channel genes, KCNQ2 on chromosome 20q13.3 and KCNQ3 on chromosome 8q24, have been identified as the genes responsible for benign familial neonatal convulsions. By linkage analysis and mutation analysis of KCNQ2 gene, we found a novel frameshift mutation of KCNQ2 gene, 1931delG, in a large Chinese family with benign familial neonatal convulsions. This mutation is located in the C-terminus of KCNQ2, in codon 644 predicting the replacement of the last 201 amino acids with a stretch of 257 amino acids showing a completely different sequence. An unusual clinical feature of this family is that the seizures of every patient did not remit until 12 to 18 months. This is the first report of KCNQ2 gene mutation in China.
【免责声明】以下全部内容由[唐北沙]上传于[2009年04月03日 17时20分39秒]，版权归原创者所有。本文仅代表作者本人观点，与本网站无关。本网站对文中陈述、观点判断保持中立，不对所包含内容的准确性、可靠性或完整性提供任何明示或暗示的保证。请读者仅作参考，并请自行承担全部责任。
本学者其他成果
同领域成果
