Neuropediatrics 2011; 42(04): 135-137
DOI: 10.1055/s-0031-1285837
Original Article
Georg Thieme Verlag KG Stuttgart · New York

SCN1B is Not Related to Benign Partial Epilepsy in Infancy or Convulsions with Gastroenteritis

S. Yamashita
1  Department of Pediatrics, Juntendo Nerima Hospital, Tokyo, Japan
,
A. Okumura
2  Department of Pediatrics, Juntendo University School of Medicine, Tokyo, Japan
,
T. Yamamoto
3  Institute for Integrated Medical Sciences, Tokyo Women′s Medical University, Tokyo, Japan
,
K. Shimojima
3  Institute for Integrated Medical Sciences, Tokyo Women′s Medical University, Tokyo, Japan
,
T. Tanabe
4  Department of Pediatrics, Hirakata Municipal Hospital, Hirakata, Japan
,
T. Shimizu
2  Department of Pediatrics, Juntendo University School of Medicine, Tokyo, Japan
› Author Affiliations
Further Information

Publication History

received 06 December 2010

accepted 15 July 2011

Publication Date:
31 August 2011 (eFirst)

Abstract

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.