title: Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q.
abstract: The syndrome of benign familial neonatal convulsions (BFNC) is a rare autosomal dominant disorder characterized by unprovoked seizures in the first few weeks of life. One locus for BFNC has been mapped to chromosome 20 in several pedigrees, but we have excluded linkage to chromosome 20 in one large kindred. In order to identify this novel BFNC locus, dinucleotide repeat markers distributed throughout the genome were used to screen this family. Maximum pairwise LOD scores of 4.43 were obtained with markers D8S284 and D8S256 on chromosome 8q. Multipoint analysis placed the BFNC locus in the interval spanned by D8S198-D8S274. This study establishes the presence of a new BFNC locus and confirms genetic heterogeneity of this disorder.
authors.affiliation: Department of Cellular and Structural Biology, University of Texas Health Science Center, San Antonio 78284.
authors.forename: T B
authors.initials: TB
authors.lastname: Lewis
authors.forename: R J
authors.initials: RJ
authors.lastname: Leach
authors.forename: K
authors.initials: K
authors.lastname: Ward
authors.forename: P
authors.initials: P
authors.lastname: O'Connell
authors.forename: S G
authors.initials: SG
authors.lastname: Ryan
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping / Q000379:methods; D002890:Chromosomes, Human, Pair 20; D002898:Chromosomes, Human, Pair 8; D004829:Epilepsy, Generalized / Q000235:genetics*; D008040:Genetic Linkage; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008126:Lod Score; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid; D013036:Spasms, Infantile / Q000235:genetics*