Weng Wen-Chin, Hirose Shinichi, Lee Wang-Tso
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
J Child Neurol. 2010 Dec;25(12):1521-4. doi: 10.1177/0883073810370898. Epub 2010 Jun 2.
Benign convulsions with mild gastroenteritis were afebrile seizures associated with gastroenteritis in previously healthy infants or young children. It has been thought to be a continual spectrum of benign infantile convulsions because of overlapping clinical pictures. Recently, molecular genetic studies have suggested a channelopathy in benign infantile convulsions. The authors prospectively studied the clinical features of benign convulsions with mild gastroenteritis in Taiwanese children and clarified the relationship between neuronal sodium channel alpha 1 subunit (SCN1A) gene and benign convulsions with mild gastroenteritis. The clinical pictures in their patients were similar to those of previous studies except for the low rate of positive rotavirus antigen in the stool, which may indicate a season-related viral infection. No mutations in the SCN1A gene were identified in all patients. This study suggested that SCN1A mutations are probably not associated with benign convulsions with mild gastroenteritis. Other possible pathogenic mechanisms need to be researched in the future.
轻度肠胃炎伴发的良性惊厥是既往健康的婴幼儿中与肠胃炎相关的无热惊厥。由于临床表现重叠，它一直被认为是良性婴儿惊厥的连续谱。最近，分子遗传学研究提示良性婴儿惊厥存在离子通道病。作者前瞻性地研究了台湾儿童轻度肠胃炎伴发的良性惊厥的临床特征，并阐明了神经元钠通道α1亚基（SCN1A）基因与轻度肠胃炎伴发的良性惊厥之间的关系。除了粪便中轮状病毒抗原阳性率较低外，他们患者的临床表现与既往研究相似，这可能表明存在与季节相关的病毒感染。所有患者均未发现SCN1A基因突变。这项研究提示SCN1A突变可能与轻度肠胃炎伴发的良性惊厥无关。未来需要研究其他可能的致病机制。
