Document Detail


Refractory photosensitive epilepsy associated with a complex rearrangement of chromosome 2.
MedLine Citation:
PMID:  12571788     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
H Van Esch; M Syrrou; L Lagae
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Neuropediatrics     Volume:  33     ISSN:  0174-304X     ISO Abbreviation:  Neuropediatrics     Publication Date:  2002 Dec 
Date Detail:
Created Date:  2003-02-06     Completed Date:  2003-04-23     Revised Date:  2008-01-16    
Medline Journal Info:
Nlm Unique ID:  8101187     Medline TA:  Neuropediatrics     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  320-3     Citation Subset:  IM    
Affiliation:
University Hospitals Gasthuisberg, Department of Pediatric Neurology, Leuven, Belgium.
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MeSH Terms
Descriptor/Qualifier:
Beta Rhythm
Cerebral Cortex / physiopathology
Chromosomes, Human, Pair 2*
Electroencephalography
Epilepsies, Myoclonic / diagnosis,  genetics*,  physiopathology
Epilepsy, Reflex / diagnosis,  genetics*,  physiopathology
Evoked Potentials / physiology
Follow-Up Studies
Gene Rearrangement*
Humans
Infant
Infant, Newborn
Karyotyping
Male
Mental Retardation / diagnosis,  genetics,  physiopathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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