Benign Convulsions With Mild Gastroenteritis: Is It Associated With Sodium Channel Gene Scn1A Mutation?

Journal http://jcn.sagepub.com/ of Child Neurology

Benign Convulsions With Mild Gastroenteritis: Is It Associated With Sodium Channel Gene SCN1A Mutation?
Wen-Chin Weng, Shinichi Hirose and Wang-Tso Lee J Child Neurol 2010 25: 1521 originally published online 2 June 2010 DOI: 10.1177/0883073810370898 The online version of this article can be found at: http://jcn.sagepub.com/content/25/12/1521Published by:
http://www.sagepublications.com

Additional services and information for Journal of Child Neurology can be found at: Email Alerts: http://jcn.sagepub.com/cgi/alerts Subscriptions: http://jcn.sagepub.com/subscriptions Reprints: http://www.sagepub.com/journalsReprints.nav Permissions: http://www.sagepub.com/journalsPermissions.nav Citations:http://jcn.sagepub.com/content/25/12/1521.refs.html

Downloaded from jcn.sagepub.com at HINARI on December 27, 2010

Original Article
Journal of Child Neurology 25(12) 1521-1524 ª The Author(s) 2010 Reprints and permission: sagepub.com/journalsPermissions.nav DOI: 10.1177/0883073810370898 http://jcn.sagepub.com

Benign Convulsions With Mild Gastroenteritis: Is It Associated With Sodium Channel Gene SCN1A Mutation?
Wen-ChinWeng, MD1, Shinichi Hirose, MD, PhD2, and Wang-Tso Lee, MD, PhD1

Abstract 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 achannelopathy 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 studiesexcept 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. Keywords convulsions,gastroenteritis, SCN1A, Taiwan
Received February 19, 2010. Accepted for publication April 4, 2010.

Benign convulsions with mild gastroenteritis have been reported in Japan and other countries.1-4 It is well recognized in Japanese pediatric patients and is characterized as a cluster of afebrile seizures associated with gastroenteritis in previously healthy infants or young children.1-5 Thelaboratory examinations including electrolytes, blood glucose, and cerebrospinal fluid are normal and interictal electroencephalogram shows no abnormalities. The seizures often occur in clusters and are resistant to anticonvulsants such as diazepam or phenobarbital.2,6 However, the prognosis is considered excellent despite initially intractable seizures, and psychomotor development is normal before andafter the episodes.2,4 The pathogenic mechanisms of benign convulsions with mild gastroenteritis remain unclear. Because the clinical features of benign convulsions with mild gastroenteritis resemble those of benign infantile convulsions, benign convulsions with mild gastroenteritis have been classified into the spectrum of benign infantile convulsions with an underlying geneticpredisposition.7-11 Recent molecular genetic studies have suggested a channelopathy in benign infantile convulsions.12-15 Furthermore, de novo mutations of the sodium channel gene SCN1A were identified in alleged vaccine encephalopathy.16 Whether

the SCN1A mutation is also a responsible mechanism for benign convulsions with mild gastroenteritis remains to be clarified. In the present study, we prospectively...