We present a patient (3 months old) with partial and generalized seizures who 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 her 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 reported 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, suggesting that a second locus is involved in this family.
Benign infantile familial convulsions : natural history of a case and clinical characteristics of a large Italian family / L. Giordano, P. Accorsi, D. Valseriati, A. Tiberti, E. Menegati, F. Zara, A. Vignoli, F. Vigevano. - In: NEUROPEDIATRICS. - ISSN 0174-304X. - 30:2(1999 Apr), pp. 99-101.
|Titolo:||Benign infantile familial convulsions : natural history of a case and clinical characteristics of a large Italian family|
GIORDANO, FRANCESCA LUANA (Primo)
VIGNOLI, AGLAIA (Penultimo)
|Parole Chiave:||BIFC; Epileptic syndrome; Infant; Linkage analysis|
|Settore Scientifico Disciplinare:||Settore MED/39 - Neuropsichiatria Infantile|
|Data di pubblicazione:||apr-1999|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1055/s-2007-973469|
|Appare nelle tipologie:||01 - Articolo su periodico|