Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals
In: Epilepsybehavior : EB, Jg. 124 (2021-06-30)
Online
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Zugriff:
Background Epilepsy is a main feature of Mowat Wilson Syndrome (MWS), a congenital malformation syndrome caused by ZEB2 variants. The aim of this study was to investigate the long-term evolution of the electroclinical phenotype of MWS in a large population. Methods Forty-individuals with a genetically confirmed diagnosis were enrolled. Three age groups were identified (t1 = 0–4; t2 = 5–12; t3 = >13 years); clinical data and EEG records were collected, analyzed, and compared for age group. Video-EEG recorded seizures were reviewed. Results Thirty-six of 40 individuals had epilepsy, of whom 35/35 aged >5 years. Almost all (35/36) presented focal seizures at onset (mean age at onset 3.4 ± 2.3 SD) that persisted, reduced in frequency, in 7/22 individuals after the age of 13. Absences occurred in 22/36 (mean age at onset 7.2 ± 0.9 SD); no one had absences before 6 and over 16 years old. Paroxysmal interictal abnormalities in sleep also followed an age-dependent evolution with a significant increase in frequency at school age (p = 0.002) and a reduction during adolescence (p = 0.008). Electrical Status Epilepticus during Sleep occurred in 14/36 (13/14 aged 5–13 years old at onset). Seven focal seizure ictal video-EEGs were collected: all were long-lasting and more visible clinical signs were often preceded by prolonged electrical and/or subtle (erratic head and eye orientation) seizures. Valproic acid was confirmed as the most widely used and effective drug, followed by levetiracetam. Conclusions Epilepsy is a major sign of MWS with a characteristic, age-dependent, electroclinical pattern. Improvement with adolescence/adulthood is usually observed. Our data strengthen the hypothesis of a GABAergic transmission imbalance underlying ZEB2-related epilepsy.
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Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals
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Autor/in / Beteiligte Person: | Fiumara, Agata ; Epifanio, Roberta ; Veronica Di Pisa ; Pantaleoni, Chiara ; Accorsi, Patrizia ; Zanotta, Nicoletta ; Finardi, Erica ; Bonanni, Paolo ; Grioni, Daniele ; Raviglione, Federico ; Garavelli, Livia ; Savasta, Salvatore ; Ricci, Emilia ; Faravelli, Francesca ; Stefano Giuseppe Caraffi ; Tarani, Luigi ; Ivanovski, Ivan ; Chiarello, Daniela ; Rivieri, Francesca ; Mammi, Isabella ; Fetta, Anna ; Bonetti, Silvia ; Boni, Antonella ; Dormi, Ada ; Osanni, Elisa ; Arena, Alessia ; Duccio Maria Cordelli ; Romeo, Antonino ; Giordano, Lucio ; Vignoli, Aglaia ; Rizzi, R. ; Maria Paola Canevini ; Negrin, Susanna ; Ricci, E. ; Fetta, A. ; Garavelli, L. ; Caraffi, S. ; Ivanovski, I. ; Bonanni, P. ; Accorsi, P. ; Giordano, L. ; Pantaleoni, C. ; Romeo, A. ; Arena, A. ; Bonetti, S. ; Boni, A. ; Chiarello, D. ; Di Pisa V. ; Epifanio, R. ; Faravelli, F. ; Finardi, E. ; Fiumara, A. ; Grioni, D. ; Mammi, I. ; Negrin, S. ; Osanni, E. ; Raviglione, F. ; Rivieri, F. ; Savasta, S. ; Tarani, L. ; Zanotta, N. ; Dormi, A. ; Vignoli, A. ; Canevini, M. ; D.M., Cordelli |
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Zeitschrift: | Epilepsybehavior : EB, Jg. 124 (2021-06-30) |
Veröffentlichung: | 2021 |
Medientyp: | unknown |
ISSN: | 1525-5069 (print) |
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