Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy
Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy
复制标题
DOI：
10.1016/j.braindev.2005.05.002
复制
发表时间：
2006-03-01
影响因子：
1.7
通讯作者：
Pascotto, A
中科院分区：
文献类型：
--
作者：
Coppola, G;Veggiotti, P;Pascotto, A
对三名具有最近描述的婴儿期迁移性部分性癫痫综合征典型特征的儿童进行了钾（KCNQ2、KCNQ3）、钠（SCN1A、SCN2A）和氯（CLCN2）离子通道的突变分析。采用PCR和自动测序进行突变分析。编码区，包括外显子-内含子边界，在患者中使用适当的引物进行扩增。没有发现与迁移性部分性癫痫发作相关的突变。CLCN2基因的突变筛查显示，在三名患者中，有两名患者出现了纯合突变G2003C（外显子17），导致密码子668处Ser/Thr替换。在100个对照等位基因中，有38个发现了相同的变异。这种新的癫痫性脑病的遗传基础的鉴定需要进一步的研究，这可能是由家族病例强制。(c) 2005 Elsevier B.V.版权所有
The mutational analysis of potassium (KCNQ2, KCNQ3), sodium (SCN1A, SCN2A), and chloride (CLCN2) ion channels was performed in three children with typical features of the recently described syndrome of migrating partial seizures in infancy. Mutational analysis was performed by PCR and automatic sequencing. The coding regions, including the exon-intron boundaries, were amplified in the patients using appropriate primers sets. No mutations associated to migrating partial seizures have been found. Mutational screening of CLCN2 gene, revealed a homozygous mutation G2003C (exon 17), leading to a Ser/Thr substitution at the codon 668, in two of the three patients. The same variation has been found in 38 out of 100 control alleles. The identification of the genetic basis of this new epileptic encephalopathy requires further studies that might be enforced by familial cases. (c) 2005 Elsevier B.V. All rights reserved.