LINKAGE MAPPING OF BENIGN FAMILIAL INFANTILE CONVULSIONS (BFIC) TO CHROMOSOME 19Q

Citation
M. Guipponi et al., LINKAGE MAPPING OF BENIGN FAMILIAL INFANTILE CONVULSIONS (BFIC) TO CHROMOSOME 19Q, Human molecular genetics, 6(3), 1997, pp. 473-477
Citations number
20
Categorie Soggetti
Genetics & Heredity",Biology
Journal title
ISSN journal
09646906
Volume
6
Issue
3
Year of publication
1997
Pages
473 - 477
Database
ISI
SICI code
0964-6906(1997)6:3<473:LMOBFI>2.0.ZU;2-M
Abstract
Benign familial infantile convulsions (BFIC) are an autosomal-dominant epileptic syndrome characterized by an age of onset within the first year of life, Although they were first reported in families of Italian descent, BFIC have also been described in non-Italian families, We ha ve mapped the BFIC gene to chromosome 19 by linkage analysis in five I talian families with a maximum two-point lod score of 6.36 at D19S114; maximum multipoint lod scores >8 were obtained for the interval D19S2 50-D19S245. BFIC are therefore the third idiopathic partial epileptic syndrome to be mapped on the human genome.