Human Molecular Genetics · 1997 · 166 citations · 13 references
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.
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The American Journal of Human Genetics
J. S. · Population · 1950 · 5.1K citations
A comprehensive genetic map of the human genome based on 5,264 microsatellites
Colette Dib, Sabine Fauré, Cécile Fizames et al. · Nature · 1996 · 3K citations
Easy calculations of lod scores and genetic risks on small computers.
G.M. Lathrop, J.-M. Lalouel · PubMed · 1984 · 1.5K citations
Benign familial neonatal convulsions linked to genetic markers on chromosome 20
Mark Leppert, Vernon Anderson, T G Quattlebaum et al. · Nature · 1989 · 368 citations
Localization of a gene for partial epilepsy to chromosome 10q
Ruth Ottman, Neil Risch, W. Allen Hauser et al. · Nature Genetics · 1995 · 352 citations · Full text