title: Evidence of a third locus for benign familial convulsions.
abstract: Two autosomal dominant forms of benign idiopathic epilepsy of early life have been described: benign neonatal familial convulsions and benign infantile familial convulsions. Herein we describe a pedigree with familial convulsions in which the age of onset is intermediate between that seen in these two disorders. Two genes responsible for benign neonatal familial convulsions have been mapped to chromosome 20q and to chromosome 8q. Previously, the chromosome 20q benign neonatal familial convulsions locus had been excluded in this pedigree. Further linkage analysis in our laboratory revealed that the chromosome 8 benign neonatal familial convulsions locus also is not responsible for seizures in this pedigree. These results indicate that there are at least three loci responsible for autosomal dominant benign epilepsies of early life.
authors: Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio 78284, USA.
authors: T B
authors: TB
authors: Lewis
authors: M I
authors: MI
authors: Shevell
authors: E
authors: E
authors: Andermann
authors: S G
authors: SG
authors: Ryan
authors: R J
authors: RJ
authors: Leach
mesh_terms: D017668:Age of Onset; D002869:Chromosome Aberrations / Q000235:genetics* / Q000503:physiopathology; D025063:Chromosome Disorders; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008126:Lod Score; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011995:Recombination, Genetic; D012075:Remission, Spontaneous; D012640:Seizures / Q000209:etiology / Q000235:genetics*
chemical_list: D005819:Genetic Markers