The X-linked infantile spasms syndrome (MIM 308350) maps to xp11.4-Xpter in two pedigrees

Claes, S;Devriendt, Koenraad;Lagae, Lieven;Ceulemans, B.;Fryns, JP.;et.al.
(1997) Annals of Neurology — Vol. 42, n° 3, p. 360-364 (1997)

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Authors
  • Claes, S
    Author
  • Devriendt, KoenraadUCLouvain
    Author
  • Lagae, LievenUCLouvain
    Author
  • Ceulemans, B.
    Author
  • Fryns, JP.
    Author
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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 familiar cases might greatly improve our understanding of infantile spasms.
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Claes, S., Devriendt, K., Lagae, L., Ceulemans, B., Dom, L., Casaer, P., Raeymaekers, P., Cassiman, JJ., & Fryns, JP. (1997). The X-linked infantile spasms syndrome (MIM 308350) maps to xp11.4-Xpter in two pedigrees. Annals of Neurology, 42(3), 360-364. https://doi.org/10.1002/ana.410420313 (Original work published 1997)