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

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.

PRRT2 mutation in Japanese children with benign infantile epilepsy

“…In this region, sodium channel, voltage-gated, type I, beta gene (SCN1B) is included. Although we previously explored SCN1B mutations in 6 children with BIE and 6 children with convulsions with mild gastroenteritis, mutations were not recognized in any of them [27]. Clinical features of the family members with BIE mapped to 1q region [25] including age at the onset, seizure manifestations, and frequent occurrence of seizures in cluster, are also similar to those of our patients without PRRT2 mutation.…”

Clinical Characteristics and Risk Factors for Seizures Associated With Norovirus Gastroenteritis in Childhood

“…However, the sodium channel subunit genes SCN1A and SCN1B are not associated with the benign convulsions of gastroenteritis patients. 23,24…”

Lesions of Acetylcholine Neurons in Refractory Epilepsy

“…However, it is surprising that 5 CwG patients showed a significant change in the CSF levels of acetylcholine and serotonin metabolites (Table 4). Generally, seizure and developmental prognosis is good in patients with CwG, but the detailed pathogenesis has not been clarified yet [16, 30]. It is possible that transient alterations of neurotransmitter metabolism are involved in CwG.…”