| Clinical and genetic analysis of two Chinese families with benign familial neonatal convulsions |
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| 作者姓名： | LI Haiyan TANG Beish XIA Kun CAO Guifang SHEN Lu JIANG Hong PANQian SONG Yanmin CAI Fang |
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| 作者单位： | Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China,Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China;,National Laboratory of Medical Genetics of China, Changsha 410008, China,Department of Neurology, the First Affiliated Hospital, Tsinghua University, Beijing 100061, China,Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China,Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China,National Laboratory of Medical Genetics of China, Changsha 410008, China,Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China,National Laboratory of Medical Genetics of China, Changsha 410008, China |
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| 摘 要： | Benign familial neonatal convulsions (BFNC) is a rare autosomal dominant inherited epilepsy syndrome. Two voltage-gated potassium channel genes, KCNQ2 and KCNQ3, have been identified as the genes responsible for BFNC. Here we report two Chinese families with clinical histories of typical BFNC. Using six microsatellite markers, two located at KCNQ2 locus and four at KCNQ3 locus, linkage analysis was performed in the two families, which excluded the linkage of BFNC to KCNQ3, but could not exclude the linkage to KCNQ2. Direct DNA sequencing of the KCNQ2 gene in the two families was performed, and two formerly unknown polymorphisms were identified, but no KCNQ2 mutation was found in the two families. Our study suggests the genetic heterogeneity in Chinese families with BFNC and proves the existence of a new gene locus for BFNC.
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| 关 键 词： | BFNC epilepsy potassium channel linkage analysis mutation analysis. |
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