Shi Xiuyu, Wang Jiwen, Kurahashi Hirokazu, Ishii Atsushi, Higurashi Norimichi, Kaneko Sunao, Hirose Shinichi
Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.
Brain Dev. 2012 Sep;34(8):617-9. doi: 10.1016/j.braindev.2011.11.005. Epub 2011 Dec 27.
This study examines whether microdeletions and duplications of the gene encoding α1 subunit of the sodium channel (SCN1A) are underlying causes in Dravet syndrome (DS) with SCN1A missense mutation. Multiple exonic deletions were identified in 8/84 patients without mutation and 0/41 patients with missense mutations. Our findings indicate that while microdeletions are not rare in SCN1A-negative patients, they are not likely to be present simultaneously with other SCN1A mutations.
本研究探讨编码钠通道α1亚基（SCN1A）的基因的微缺失和微重复是否是伴有SCN1A错义突变的Dravet综合征（DS）的潜在病因。在84例无突变患者中有8例检测到多个外显子缺失，而在41例错义突变患者中未检测到。我们的研究结果表明，虽然微缺失在SCN1A阴性患者中并不罕见，但它们不太可能与其他SCN1A突变同时存在。
