[tri-med] FYI - Ring chromosome 20 epilepsy syndrome in children

I am forwarding this article or URL for your information (FYI) as I believe
it may be of interest and is from a reliable source. As always, check the
information with your own doctor or health care professional before starting
or changing any treatments.

http://www.neurology.org/cgi/content/abstract/57/6/1108

Neurology 2001;57:1108-1111
© 2001 American Academy of Neurology

--------------------------------------------------------------------------------

Brief Communications

Ring chromosome 20 epilepsy syndrome in children
Electroclinical features
P. B. Augustijn, MD, J. Parra, MD, C. H. Wouters, PhD, P. Joosten, BS, D. 
Lindhout, MD PhD; and W. van Emde Boas, MD PhD
From "Meer en Bosch" and "De Cruquiushoeve" (Drs. Augustijn, Parra, and van 
Emde Boas), Stichting Epilepsie Instellingen Nederland,
Heemstede; MGC Department of Clinical Genetics (Dr. Wouters and P. Joosten), 
University Hospital Dijkzigt, Erasmus University,
Rotterdam; and Department of Medical Genetics (Dr. Lindhout), University 
Medical Centre Utrecht, the Netherlands.

Address correspondence and reprint requests to Dr. P.B. Augustijn, S.E.I.N 
"Meer en Bosch" and "De Cruquiushoeve," P.O. Box 21,
NL-2100 AA Heemstede, the Netherlands; e-mail: paugustijn@xxxxxxx

Article abstract-- Ring chromosome 20 mosaicism is associated with dysmorphic 
features, mental retardation, and intractable
seizures, including recurrent episodes of nonconvulsive status epilepticus. The 
authors' findings in four children, all without
dysmorphic features, indicate that mental deterioration and frequent subtle 
nocturnal frontal lobe seizures, associated with a
characteristic EEG pattern, represent prominent additional clinical features 
not previously described in this syndrome. This
emphasizes the importance of full-night video-EEG in children with frontal lobe 
seizures and cognitive deterioration.

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