Benign convulsions with mild gastroenteritis: is it associated with sodium channel gene SCN1A mutation?
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.
Weng
Wen-Chin
WC
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Hirose
Shinichi
S
Lee
Wang-Tso
WT
D044466:Asian People / Q000235:genetics; D020936:Epilepsy, Benign Neonatal / Q000235:genetics*; D005260:Female; D005759:Gastroenteritis / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011446:Prospective Studies; D015222:Sodium Channels / Q000235:genetics*; D013624:Taiwan / Q000453:epidemiology / Q000208:ethnology
D005819:Genetic Markers; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels