Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q.
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 have mapped the BFIC gene to chromosome 19 by linkage analysis in five Italian families with a maximum two-point lod score of 6.36 at D19S114; maximum multipoint lod scores > 8 were obtained for the interval D19S250-D19S245. BFIC are therefore the third idiopathic partial epileptic syndrome to be mapped on the human genome.
Guipponi
M
M
Laboratory of Experimental Medicine, CNRS UPR 9008, INSERM U249, Montpellier, France.
Rivier
F
F
Vigevano
F
F
Beck
C
C
Crespel
A
A
Echenne
B
B
Lucchini
P
P
Sebastianelli
R
R
Baldy-Moulinier
M
M
Malafosse
A
A
D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D012640:Seizures / Q000235:genetics
D005819:Genetic Markers