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Title: Refractory photosensitive epilepsy associated with a complex rearrangement of chromosome 2
Authors: Van Esch, Hilde ×
Syrrou, Maria
Lagae, Lieven #
Issue Date: Feb-2003
Series Title: Neuropediatrics vol:33 issue:6 pages:320-3
Abstract: We describe the relevant clinical and therapeutic parameters in a single patient with a complex chromosome 2 abnormality presenting with refractory myoclonic photosensitive epilepsy. FISH technology using yeast artificial chromosomes (YACs) was employed to determine breakage points, microdeletions and inversions on the affected chromosome. In this patient with refractory photosensitive epilepsy, 12 breakpoints and one small inversion were identified on the abnormal chromosome 2. Our data can be used in further genetic studies on the exact location and identification of photosensitivity genes.
ISSN: 0174-304X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Brain & Metabolism Section (-)
× corresponding author
# (joint) last author

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