Yamashita S, Okumura A, Yamamoto T, Shimojima K, Tanabe T, Shimizu T
Department of Pediatrics, Juntendo Nerima Hospital, Tokyo, Japan.
Neuropediatrics. 2011 Aug;42(4):135-7. doi: 10.1055/s-0031-1285837. Epub 2011 Aug 31.
We hypothesized that benign partial epilepsy in infancy (BPEI) and convulsions with gastroenteritis (CwG) may have a similar genetic background, because previous studies indicate that clinical features overlap between BPEI and CwG. As carbamazepine is effective for cessation of clustering seizures in children with BPEI and CwG, some genetic mutations regarding sodium channels may be related to the development of BPEI and/or CwG. We focused on SCN1B encoding the voltage-dependent sodium channel β subunit. We explored SCN1B mutation in 6 children with BPEI and 6 children with CwG. Genomic DNAs were extracted from peripheral blood samples accumulated from the patients and all 5 exons of SCN1B were amplified by standard PCR amplification. There were no SCN1B mutations or pathological single nucleotide polymorphisms in any of the patients, although the phenotypes of our patients were typical for BPEI or CwG. Our study demonstrated that SCN1B may not be related to the occurrence of BPEI or CwG.
我们推测婴儿期良性部分性癫痫（BPEI）和伴有肠胃炎的惊厥（CwG）可能具有相似的遗传背景，因为先前的研究表明BPEI和CwG的临床特征存在重叠。由于卡马西平对BPEI和CwG患儿的成簇发作停止有效，一些与钠通道相关的基因突变可能与BPEI和/或CwG的发病有关。我们重点研究了编码电压依赖性钠通道β亚基的SCN1B。我们对6例BPEI患儿和6例CwG患儿进行了SCN1B突变检测。从患者积累的外周血样本中提取基因组DNA，并通过标准PCR扩增对SCN1B的所有5个外显子进行扩增。尽管我们患者的表型为典型的BPEI或CwG，但所有患者均未检测到SCN1B突变或病理性单核苷酸多态性。我们的研究表明，SCN1B可能与BPEI或CwG的发生无关。
