Affiliations: Department of Pediatrics, University Hospital of
Rigshospitalet, Copenhagen, Denmark | Department of Clinical Genetics, University Hospital
of Rigshospitalet, Copenhagen, Denmark | Department of Pediatrics, University Hospital of
Roskilde, Copenhagen, Denmark
Note: [] Correspondence: Christina E. Hoei-Hansen, MD, DMSc, Department
of Pediatrics, Section 4072, University Hospital of Rigshospitalet, Blegdamsvej
9, DK-2100 Copenhagen, Denmark. Tel.: +45 3545 4072; E-mail: chh@dadlnet.dk
Abstract: Infantile spasms is one of the epileptic encephalopathies. These
have a variety of established etiological factors, but in a subset of cases,
the underlying cause is not evident despite extensive investigations. These
cases are referred to as idiopathic or cryptogenic infantile spasms. We report
on two cases where the etiology was established by high-resolution
array-comparative genomic hybridization as a de novo deletion in the STXBP1
gene. We propose to include high-resolution array-comparative genomic
hybridization as a part of the diagnostic evaluation program in patients with
infantile spasms with an unknown etiology. Establishment of the etiology has
important implications for prognosis and genetic counseling.
