title: Refinement of the chromosome 16 locus for benign familial infantile convulsions.
abstract: Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited partial epilepsy syndrome of early childhood with remission before the age of 3 years. The syndrome has been linked to loci on chromosomes 1q23, 2q24, 16p12-q12, and 19q in various families. The aim of this study was to identify the responsible locus in four unrelated Dutch families with BFIC. Two of the tested families had pure BFIC; in one family, affected individuals had BFIC followed by paroxysmal kinesigenic dyskinesias at later age, and in one family, BFIC was accompanied by later-onset focal epilepsy in older generations. Linkage analysis was performed for the known loci on chromosomes 1q23, 2q24, 16p12-q12, and 19q. The two families with pure BFIC were linked to chromosome 16p12-q12. Using recombinants from these and other published families, the chromosome 16-candidate gene region was reduced from 21.4 Mb (4.3 cm) to 2.7 Mb (0.0 cm). For the other two families, linkage to any of the known loci was unlikely. In conclusion, we confirm the linkage of pure BFIC to chromosome 16p12-q12, with further refinement of the locus. Furthermore, the lack of involvement of the known loci in two of the families indicates further genetic heterogeneity for BFIC.
authors.affiliation: Department of Neurology, University Medical Center Groningen, Groningen, The Netherlands.
authors.forename: P M C
authors.initials: PM
authors.lastname: Callenbach
authors.forename: E H
authors.initials: EH
authors.lastname: van den Boogerd
authors.forename: R F M
authors.initials: RF
authors.lastname: de Coo
authors.forename: R
authors.initials: R
authors.lastname: ten Houten
authors.forename: J C
authors.initials: JC
authors.lastname: Oosterwijk
authors.forename: G
authors.initials: G
authors.lastname: Hageman
authors.forename: R R
authors.initials: RR
authors.lastname: Frants
authors.forename: O F
authors.initials: OF
authors.lastname: Brouwer
authors.forename: A M J M
authors.initials: AM
authors.lastname: van den Maagdenberg
mesh_terms: D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D020936:Epilepsy, Benign Neonatal / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D010375:Pedigree
chemical_list: D005819:Genetic Markers