Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus
Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus
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DOI：
10.1086/319516
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发表时间：
2001-04-01
影响因子：
9.8
通讯作者：
Berkovic, SF
中科院分区：
文献类型：
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作者：
Wallace, RH;Scheffer, IE;Berkovic, SF
全身性癫痫伴热性惊厥加重（GEFS+）是一种家族性癫痫综合征，其特征为存在热性惊厥和无热性惊厥。第一个基因GEFS 1定位于染色体19 q，被鉴定为钠通道β 1亚基SCN 1B。染色体2 q上的第二个位点GEFS 2最近被鉴定为钠通道α 1亚基SCN 1A。在53例不相关的索引病例中进行了SCN 1A的单链构象分析（SSCA），以估计GEFS+患者的突变频率。在17例GEFS+孤立病例中未发现突变。在36个家族性病例中发现了3个新的SCN 1A突变-D188 V，V1353 L和I1656 M;在其余33个家族中，3个有SCN 1B突变。在SSCA的基础上，发现家族性GEFS+病例中SCN 1A和SCN 1B突变的组合频率为17%。
Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by the presence of febrile and afebrile seizures. The first gene, GEFS1, was mapped to chromosome 19q and was identified as the sodium-channel beta1-subunit, SCN1B. A second locus on chromosome 2q, GEFS2, was recently identified as the sodium-channel alpha1-subunit, SCN1A. Single-stranded conformation analysis (SSCA) of SCN1A was performed in 53 unrelated index cases to estimate the frequency of mutations in patients with GEFS+. No mutations were found in 17 isolated cases of GEFS+. Three novel SCN1A mutations-D188V, V1353L, and I1656M-were found in 36 familial cases; of the remaining 33 families, 3 had mutations in SCN1B. On the basis of SSCA, the combined frequency of SCN1A and SCN1B mutations in familial cases of GEFS+ was found to be 17%.