Brain, Vol 120, Issue 6 939-953, Copyright © 1997 by Oxford University Press
Y Inoue, T Fujiwara, K Matsuda, H Kubota, M Tanaka, K Yagi, K Yamamori and Y Takahashi
Six cases of epilepsy associated with ring chromosome 20 are presented. The
study of these cases and 20 cases reported in the literature revealed that
they constitute a distinct epileptic syndrome: frequent seizures consisting
of a prolonged confusional state, with or without additional motor
seizures, and an ictal EEG pattern of long-lasting bilateral paroxysmal
high-voltage slow waves with occasional spikes. Neurological examination
results were normal, and neuroimaging studies often failed to disclose a
brain lesion. The seizures were resistant to antiepileptic drug therapy.
Comparison of the electroclinical features of nonconvulsive status
epilepticus in six patients with and four patients without ring chromosome
20 revealed that the group with the chromosomal anomaly had more frequent,
comparatively brief episodes of confusion associated with a less prominent
spike component on the EEG. We propose that epilepsy associated with ring
chromosome 20 constitutes a new syndrome that may provide an opportunity to
scrutinize a genetic mechanism of epilepsy.
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Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome
National Epilepsy Center, Shizuoka Higashi Hospital, Japan.
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