M. Guipponi et al., LINKAGE MAPPING OF BENIGN FAMILIAL INFANTILE CONVULSIONS (BFIC) TO CHROMOSOME 19Q, Human molecular genetics, 6(3), 1997, pp. 473-477
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.