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Study of the voltage‐gated sodium channel β1 subunit gene ( SCN1B ) in the benign familial infantile convulsions syndrome (BFIC)
Author(s) -
Moulard Bruno,
Buresi Catherine,
Malafosse Alain
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(200008)16:2<139::aid-humu6>3.0.co;2-j
Subject(s) - missense mutation , genetics , biology , epilepsy syndromes , proband , epilepsy , candidate gene , pedigree chart , exon , mutation , gene , neuroscience
Abstract Benign familial infantile convulsions (BFIC) is a rare autosomal dominant epilepsy syndrome. This syndrome has been recently described in Italian and French pedigrees. Patients present with partial, then generalized seizures, with onset at age three months. The seizures usually spontaneously cease after one year without treatment, leaving no neurological abnormalities. We have mapped BFIC to chromosome 19q in five Italian pedigrees. The sodium channel β1 subunit gene ( SCN1B ) maps to this candidate region and has been shown to be involved in one Australian pedigree with generalized epilepsy and febrile seizures “plus” (GEFS +). In this family, a missense mutation in SCN1B cosegregates with the GEFS+ phenotype. BFIC and GEFS+ have clinical features in common, therefore SCN1B is a candidate gene for BFIC. We studied SCN1B exons 1, 2, 3, 4, and 5, using four SSCP methods in 10 Caucasian BFIC probands of Western Europe. We found no exon variants. One variant was identified in intron 5 (IVS5‐10C>G), which did not segregate with BFIC and was observed in 9.2% controls. A second variant in intron 5 was identified (IVS5+30G>A). It was rare, as not observed in controls, but not segregating with the BFIC phenotype. Hum Mutat 16:139–142, 2000. © 2000 Wiley‐Liss, Inc.