Milder phenotype with SCN1A truncation mutation other than SMEI
Milder phenotype with SCN1A truncation mutation other than SMEI
复制标题
除 SMEI 外，具有 SCN1A 截短突变的较温和表型
DOI：
10.1016/j.seizure.2010.06.010
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发表时间：
2010-09
影响因子：
3
通讯作者：
Liao, Wei-Ping
中科院分区：
文献类型：
--
作者：
Yu, Mei-Juan;Shi, Yi-Wu;Gao, Mei-Mei;Deng, Wei-Yi;Liu, Xiao-Rong;Chen, Li;Long, Yue-Sheng;Yi, Yong-Hong;Liao, Wei-Ping
电压门控钠离子通道α亚单位I型（SCN 1A）基因截短突变多见于婴儿重症肌阵挛性癫痫（SMEI）患者。在这项研究中，我们首先确定了两个新的从头截断突变（S662 X和M145 fx 148）的两名患者的表型是相当温和的SMEI患者相比。1例患者被诊断为全身性癫痫伴热性惊厥+（GEFS+）;另1例为局灶性惊厥。2例患者对抗癫痫治疗（丙戊酸盐或丙戊酸盐和托吡酯联合治疗）的反应良好。我们的研究结果扩展了SCN 1A基因检测的实用性，并进一步证实了SCN 1A突变的基因型和表型之间的复杂关系。需要进一步的工作来优化癫痫儿童特定基因检测的方案。
Till now truncation mutations of voltage-gated sodium channel alpha subunit type I (SCN1A) gene were mostly found in severe myoclonic epilepsy of infancy (SMEI) patients. In this research we first identified two novel de novo truncation mutations (S662X and M145fx148) in two patients whose phenotypes were quite milder compared with SMEI patients. One patient was diagnosed as generalized epilepsy with febrile seizures plus (GEFS+); the other had focal seizures. Both patients had good response to anti-epileptic therapy (valproate or the combination of valproate and topiramate). Our findings extended the utility of the SCN1A gene testing and further confirmed the complex relationship between genotype and phenotype of SCN1A mutations. Further work is needed to optimize the protocol for specific genetic testing in children with epilepsy.
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影响因子：
5.6
作者：
Guerrini, R;Dravet, C;Dulac, O
通讯作者：
Dulac, O
影响因子：
2.2
作者：
Sugawara, T;Tsurubuchi, Y;Yamakawa, K
通讯作者：
Yamakawa, K
影响因子：
--
作者：
R. Sankar;J. Wheless;C. Dravet;R. Guerrini;M. T. Medina;M. Bureau;P. Genton;A. Delgado-Escueta
通讯作者：
R. Sankar;J. Wheless;C. Dravet;R. Guerrini;M. T. Medina;M. Bureau;P. Genton;A. Delgado-Escueta
影响因子：
9.9
作者：
Wallace, RH;Hodgson, BL;Scheffer, IE
通讯作者：
Scheffer, IE
影响因子：
5.6
作者：
Gambardella, Antonio;Marini, Carla
通讯作者：
Marini, Carla