L. Giordano et al., Benign infantile familial convulsions: Natural history of a case and clinical characteristics of a large Italian family, NEUROPEDIAT, 30(2), 1999, pp. 99-101
We present a patient (3 months old) with partial and generalized seizures w
ho has a family history of seizures with a onset during the first 12 months
of life. We diagnosed benign infantile familial convulsions (BIFC) and we
did not introduce any antiepileptic therapy. We present clinical data of he
r family where 18 out of 35 members were affected;to our knowledge this is
the largest family with BIFC.
BIFC is transmitted as an autosomal dominant trait; recently it has been re
ported that the gene for BIFC maps to the long arm of chromosome 19.
We conducted linkage analysis in our family providing significant exclusion
of linkage between the BIFC locus phenotype and chromosome 19 markers, sug
gesting that a second locus is involved in this family.