We report here a girl aged 5 years 3 months with cryptogenic localization-related epilepsy who showed a prolonged episode characterized by dysarthria, dysphagia, drooling and paresis of the right arm associated with almost continuous diffuse sharp-slow wave complexes during sleep. These symptoms were not directly related to seizures or to each sharp-slow wave complex revealed by examination during the video electroencephalographic (EEG) recording. The interictal single photon emission compute tomography showed a localized high perfusion area in the left posterior frontal region. The introduction of clonazepam completely controlled the clinical symptoms as well as the EEG abnormality within 2 weeks. After 4 months of remission, a similar episode recurred which was associated with aggravation of EEG. The clinical and EEG characteristics of this patient were identical to those of acquired epileptiform opercular syndrome (AEOS), a newly proposed epileptic syndrome, in which a transient operculum syndrome develops in association with continuous spike-and-wave activity during slow sleep (CSWS). Computer-assisted EEG analysis demonstrated that the epileptic EEG focus was located in the left sylvian fissure, and produced secondary bilateral synchronous sharp-slow complexes. The present study further supports the hypothesis that the electrical interference by CSWS creates bilateral opercular dysfunction through the mechanism of secondary bilateral synchrony, thus producing AEOS. © 2001 Elsevier Science B.V.

Vacca, M., Filippini, F., Budillon, A., Rossi, V., DELLA RAGIONE, F., DE BONIS, M.L., et al. (2001). MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region. BRAIN & DEVELOPMENT, 23(Supp 1), 246-250 [10.1016/S0387-7604(01)00198-X].

MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region

MELONI I.;RENIERI A.;
2001-01-01

Abstract

We report here a girl aged 5 years 3 months with cryptogenic localization-related epilepsy who showed a prolonged episode characterized by dysarthria, dysphagia, drooling and paresis of the right arm associated with almost continuous diffuse sharp-slow wave complexes during sleep. These symptoms were not directly related to seizures or to each sharp-slow wave complex revealed by examination during the video electroencephalographic (EEG) recording. The interictal single photon emission compute tomography showed a localized high perfusion area in the left posterior frontal region. The introduction of clonazepam completely controlled the clinical symptoms as well as the EEG abnormality within 2 weeks. After 4 months of remission, a similar episode recurred which was associated with aggravation of EEG. The clinical and EEG characteristics of this patient were identical to those of acquired epileptiform opercular syndrome (AEOS), a newly proposed epileptic syndrome, in which a transient operculum syndrome develops in association with continuous spike-and-wave activity during slow sleep (CSWS). Computer-assisted EEG analysis demonstrated that the epileptic EEG focus was located in the left sylvian fissure, and produced secondary bilateral synchronous sharp-slow complexes. The present study further supports the hypothesis that the electrical interference by CSWS creates bilateral opercular dysfunction through the mechanism of secondary bilateral synchrony, thus producing AEOS. © 2001 Elsevier Science B.V.
2001
Vacca, M., Filippini, F., Budillon, A., Rossi, V., DELLA RAGIONE, F., DE BONIS, M.L., et al. (2001). MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region. BRAIN & DEVELOPMENT, 23(Supp 1), 246-250 [10.1016/S0387-7604(01)00198-X].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/7337