Abstract
Chromosome imbalances are associated with epilepsy but electro-clinical phenotypes
are lacking for all but the best-known syndromes. Scanty information is contained
in older case reports published in genetics journals that describe children with severe
patterns of malformation and dysmorphism. From a larger series of children with chromosome
abnormalities and epilepsy, we identified 10 patients with associated dysmorphism
without malformation. Electro-clinical features are described for each patient. We
found that these patients are at greater risk of delayed diagnosis, particularly when
there are no learning difficulties at the onset of epilepsy, as in ring chromosome
20 syndrome. Chromosome studies should be ordered on all children with learning difficulties
and epilepsy, and on children with atypical non-lesional epilepsy, even in the absence
of learning difficulties or dysmorphism.
Keywords
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References
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Article info
Publication history
Accepted:
October 1,
2003
Received:
July 14,
2003
Footnotes
☆The paper is based on the lecture given at the 6th annual meeting of the Infantile Seizure Society, Tokyo, March 15–16, 2003.
Identification
Copyright
© 2004 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
