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DOI: 10.1055/s-2002-37088
Georg Thieme Verlag Stuttgart · New York
Refractory Photosensitive Epilepsy Associated with a Complex Rearrangement of Chromosome 2
Publication History
Received: 26 July 2002
Accepted after Revision: 10 November 2002
Publication Date:
06 February 2003 (online)
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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.
Key words
Photosensitive Epilepsy - Chromosome 2 - Reflex Epilepsy
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M. D. Ph. D. L. Lagae
Department of Pediatric Neurology · University Hospitals Gasthuisberg
Herestraat 49
3000 Leuven
Belgium
Email: lieven.lagae@uz.kuleuven.ac.be