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The X‐linked infantile spasms syndrome (Mim 308350) maps to Xp 11.4–Xpter in two pedigrees
Author(s) -
Claes S.,
Devriendt K.,
Lagae L.,
Ceulemans B.,
Dom L.,
Casaer P.,
Raeymaekers P.,
Cassiman J. J.,
Fryns J. P.
Publication year - 1997
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410420313
Subject(s) - neuropathology , pedigree chart , genetic linkage , linkage (software) , west syndrome , genetics , x chromosome , disease , medicine , pediatrics , epilepsy , gene , biology , psychiatry , pathology
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.