Molecular analysis of benign familial neonatal-infantile convulsion in a Japanese family

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Linkage analysis of the large BFNC family pathogenesis narrowed down the gene locus to the region between D2S335 and D2S142 (lodscore 2.1 maximum). Some sodium channel genes (SCN1A, SCN2A, SCN3A, SCN7A) were located in this chromosome 2q23-24 domain. As analyzing those genes, we identified a single nucleotide substitution (IVS18+7A>G) in a new candidate gene, SCN7A. However, it was not proved that the substitution IVS18+7A>G caused splice error responsible for BFNC. Therefore, we performed array CGH analysis considering the possibility of gene deletion, but chromosome abnormalities causing BFNC have not been identified. Furthermore, the exome analyses of the affected and non-affected individuals in the family were not given any other information about mutations causing BNFC.