Shi Xiuyu, Yasumoto Sawa, Kurahashi Hirokazu, Nakagawa Eiji, Fukasawa Tatsuya, Uchiya Satoshi, Hirose Shinichi
Department of Pediatrics, School of Medicine, Fukuoka University, Nanakuma, Fukuoka, Japan.
Brain Dev. 2012 Aug;34(7):541-5. doi: 10.1016/j.braindev.2011.09.016. Epub 2011 Oct 24.
Mutations in SCN2A, the gene encoding α2 subunit of the neuronal sodium channel, are associated with a variety of epilepsies: benign familial neonatal-infantile seizures (BFNIS); genetic epilepsy with febrile seizures plus (GEFS+); Dravet syndrome (DS); and some intractable childhood epilepsies. More than 10 new mutations have been identified in BFNIS, all of them are missense. To date, only one nonsense mutation has been found in a patient with intractable childhood epilepsy and severe mental decline. Recently, microduplication of chromosome 2q24.3 (containing eight genes including SCN2A, SCN3A, and the 3' end of SCN1A) was reported in a family with dominantly inherited neonatal seizures and intellectual disability. Functional studies of SCN2A mutations show that they can cause divergent biophysical defects in Na(V)1.2 and impair cell surface expressions. There is no consistent relationship between genotype and phenotype.
编码神经元钠通道α2亚基的基因SCN2A中的突变与多种癫痫相关：良性家族性新生儿 - 婴儿惊厥（BFNIS）；伴有热性惊厥附加症的遗传性癫痫（GEFS +）；德雷维特综合征（DS）；以及一些难治性儿童癫痫。在BFNIS中已鉴定出10多种新突变，均为错义突变。迄今为止，在一名患有难治性儿童癫痫和严重智力衰退的患者中仅发现了一个无义突变。最近，在一个具有显性遗传新生儿惊厥和智力残疾的家族中报道了2q24.3染色体的微重复（包含八个基因，包括SCN2A、SCN3A和SCN1A的3'端）。SCN2A突变的功能研究表明，它们可在Na（V）1.2中引起不同的生物物理缺陷并损害细胞表面表达。基因型与表型之间没有一致的关系。
