Benign infantile familial convulsions: Natural history of a case and clinical characteristics of a large Italian family

Citation
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
Citations number
8
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
NEUROPEDIATRICS
ISSN journal
0174304X → ACNP
Volume
30
Issue
2
Year of publication
1999
Pages
99 - 101
Database
ISI
SICI code
0174-304X(199904)30:2<99:BIFCNH>2.0.ZU;2-E
Abstract
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.