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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{at}sein.nl
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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N Tanaka, K Kamada, and F Takeuchi Ictal magnetoencephalographic study in a patient with ring 20 syndrome J. Neurol. Neurosurg. Psychiatry, March 1, 2004; 75(3): 488 - 490. [Abstract] [Full Text] [PDF] |
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P. J. Serrano-Castro, P.B. Augustijn, J. Parra, C.H. Wouters, P. Joosten, D. Lindhout, and W. v. E. Boas Ring chromosome 20 epilepsy syndrome in children: Electroclinical features Neurology, March 26, 2002; 58(6): 987 - 987. [Full Text] [PDF] |
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