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Title: The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees
Authors: Claes, Stephan ×
Devriendt, Koenraad
Lagae, Lieven
Ceulemans, Bert
Dom, L
Casaer, Paul
Raeymaekers, Petra
Cassiman, Jean-Jacques
Fryns, Jean-Pierre #
Issue Date: Sep-1997
Series Title: Annals of neurology. vol:42 issue:3 pages:360-4
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.
ISSN: 0364-5134
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Section Child - Miscellaneous (-)
Human Mutations and Polymorphisms Section (-)
Research Group Psychiatry
Brain & Metabolism Section (-)
Translational Research in GastroIntestinal Disorders
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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