Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus
Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus
复制标题
DOI：
10.1016/j.braindev.2008.06.001
复制
发表时间：
2009-02-01
影响因子：
1.7
通讯作者：
Hirose, Shinichi
中科院分区：
文献类型：
--
作者：
Kumakura, Akira;Ito, Masatoshi;Hirose, Shinichi
本报告描述了一名4岁男性患者在1岁后经历了长时间的热性惊厥，多次热性惊厥和继发泛化的复杂部分性惊厥。编码电压门控钠通道α 1亚基的基因：SCN1A分析显示，在剪接受体位点存在杂合新生一点突变（IVS16 + 2T > C）。这种突变被推断为导致α 1亚基分子的截断，从而导致通道功能的丧失。迄今为止，截断突变仅在婴儿期严重肌阵挛性癫痫（SMEI）患者中发现，尽管仅在全身性癫痫伴发热性癫痫发作+ (GEFS+)、部分性癫痫伴FS+、FS+和FS中发现错义突变。患者的表型与部分癫痫FS+一致，而不是SMEI，包括边缘性SMEI （SMEB）。我们提出了首例部分癫痫与FS+相关的SCN1A截断突变的病例报告。除SCN1A外，其他多种基因可能同时参与癫痫表型，(C) 2008 Elsevier B.V.版权所有。
This report describes a 4-year-old male patient experienced prolonged febrile seizures after I year of age, multiple febrile seizures and complex partial seizures with secondary generalization. The gene encoding voltage-gated sodium channel alpha 1-subunit: SCN1A analysis revealed a heterozygous de novo one-point mutation (IVS16 + 2T > C) at a splice-acceptor site. This Mutation was inferred 10 Cause truncation of the alpha 1-subunit molecule and, thereby, a loss of channel function. To date, truncation mutation has been found exclusively in patients with severe myoclonic epilepsy in infancy (SMEI), although only missense mutations have been found in generalized epilepsy with febrile seizures Plus (GEFS+), partial epilepsy with FS+, FS+, and FS. The patient's phenotype is consistent with that of partial epilepsy with FS+, rather than SMEI, including borderline SMEI (SMEB). We present the first case report of partial epilepsy with FS+ associated with a truncation Mutation of SCN1A. The possibility exists for concomitant involvement of multiple genes other than SCN1A for seizure phenotypes, (C) 2008 Elsevier B.V. All rights reserved.