title: The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees.
abstract: We report 2 families with X-linked infantile spasms syndrome (X-linked West syndrome). Data from clinical examination, biochemical analysis, neuroimaging, and neuropathology are discussed. In these families, genetic linkage analysis was able to locate the disease gene to the distal part of the short arm of the X chromosome, between Xpter and Xp11.4. This is the first report of linkage with genetic markers in this disorder. Although most cases are sporadic, further unraveling of the genetic background of the familial cases might greatly improve our understanding of infantile spasms.
authors.affiliation: Center for Human Genetics, University of Leuven, Belgium.
authors.forename: S
authors.initials: S
authors.lastname: Claes
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: L
authors.initials: L
authors.lastname: Lagae
authors.forename: B
authors.initials: B
authors.lastname: Ceulemans
authors.forename: L
authors.initials: L
authors.lastname: Dom
authors.forename: P
authors.initials: P
authors.lastname: Casaer
authors.forename: P
authors.initials: P
authors.lastname: Raeymaekers
authors.forename: J J
authors.initials: JJ
authors.lastname: Cassiman
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D002675:Child, Preschool; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations; D013036:Spasms, Infantile / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*