Refractory photosensitive epilepsy associated with a complex rearrangement of chromosome 2.
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.
Van Esch
H
H
University Hospitals Gasthuisberg, Department of Pediatric Neurology, Leuven, Belgium.
Syrrou
M
M
Lagae
L
L
D001611:Beta Rhythm; D002540:Cerebral Cortex / Q000503:physiopathology; D002889:Chromosomes, Human, Pair 2; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D020195:Epilepsy, Reflex / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005071:Evoked Potentials / Q000502:physiology; D005500:Follow-Up Studies; D015321:Gene Rearrangement; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D007621:Karyotyping; D008297:Male