Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Ricci Emilia, Fetta Anna, Garavelli Livia, Caraffi Stefano, Ivanovski Ivan, Bonanni Paolo, Accorsi Patrizia, Giordano Lucio, Pantaleoni Chiara, Romeo Antonino, Arena Alessia, Bonetti Silvia, Boni Antonella, Chiarello Daniela, Di Pisa Veronica, Epifanio Roberta, Faravelli Francesca, Finardi Erica, Fiumara Agata, Grioni Daniele, Mammi Isabella, Negrin Susanna, Osanni Elisa, Raviglione Federico, Rivieri Francesca, Rizzi Romana, Savasta Salvatore, Tarani Luigi, Zanotta Nicoletta, Mowat Wilson Epilepsy Study Group, Dormi Ada, Vignoli Aglaia, Canevini Mariapaola, Cordelli Duccio M
Аннотация
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.