Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.
- Authors
- Cordelli, Duccio Maria; Garavelli, Livia; Savasta, Salvatore; Guerra, Azzurra; Pellicciari, Alessandro; Giordano, Lucio; Bonetti, Silvia; Cecconi, Ilaria; Wischmeijer, Anita; Seri, Marco; Rosato, Simonetta; Gelmini, Chiara; Della Giustina, Elvio; Ferrari, Anna Rita; Zanotta, Nicoletta; Epifanio, Roberta; Grioni, Daniele; Malbora, Baris; Mammi, Isabella; Mari, Francesca; Buoni, Sabrina; Mostardini, Rosa; Grosso, Salvatore; Pantaleoni, Chiara; Doz, Morena; Poch-Olivé, Maria Luisa; Rivieri, Francesca; Sorge, Giovanni; Simonte, Graziella; Licata, Francesca; Tarani, Luigi; Terazzi, Emanuela; Mazzanti, Laura; Cerruti Mainardi, Paola; Boni, Antonella; Faravelli, Francesca; Grasso, Marina; Bianchi, Paolo; Zollino, Marcella; Franzoni, Emilio
- Year
- 2013
- Journal
- American journal of medical genetics. Part A
- PMID
- 23322667
- DOI
- 10.1002/ajmg.a.35717
Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and is characterized by distinctive facial features, epilepsy, moderate to severe intellectual disability, corpus callosum abnormalities and other congenital malformations. Epilepsy is considered a main manifestation of the syndrome, with a prevalence of about 70-75%. In order to delineate the electroclinical phenotype of epilepsy in MWS, we investigated epilepsy onset and evolution, including seizure types, EEG features, and response to anti-epileptic therapies in 22 patients with genetically confirmed MWS. Onset of seizures occurred at a median age of 14.5 months (range: 1-108 months). The main seizure types were focal and atypical absence seizures. In all patients the first seizure was a focal seizure, often precipitated by fever. The semiology was variable, including hypomotor, versive, or focal clonic manifestations; frequency ranged from daily to sporadic. Focal seizures were more frequent during drowsiness and sleep. In 13 patients, atypical absence seizures appeared later in the course of the disease, usually after the age of 4 years. Epilepsy was usually quite difficult to treat: seizure freedom was achieved in nine out of the 20 treated patients. At epilepsy onset, the EEGs were normal or showed only mild slowing of background activity. During follow-up, irregular, diffuse frontally dominant and occasionally asymmetric spike and waves discharges were seen in most patients. Sleep markedly activated these abnormalities, resulting in continuous or near-to-continuous spike and wave activity during slow wave sleep. Slowing of background activity and poverty of physiological sleep features were seen in most patients. Our data suggest that a distinct electroclinical phenotype, characterized by focal and atypical absence seizures, often preceded by febrile seizures, and age-dependent EEG changes, can be recognized in most patients with MWS.
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External
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| Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors. | Musante I et al. | — | 2026 | → |
| ZEB2 Gene Pathogenic Variants Across Protein-Coding Regions and Impact on Clinical Manifestations: A Review. | Hossain WA et al. | — | 2025 | → |
| Identification of the DNA methylation signature of Mowat-Wilson syndrome. | Caraffi SG et al. | — | 2024 | → |
| Clinical Characteristics and Novel <i>ZEB2</i> Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome. | Han X et al. | — | 2023 | → |
| A Role for Vasoactive Intestinal Peptide Interneurons in Neurodevelopmental Disorders. | Goff KM et al. | — | 2021 | → |
| Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome. | Jakubiak A et al. | — | 2021 | → |
| Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals. | Ricci E et al. | — | 2021 | → |
| Neurological Phenotype of Mowat-Wilson Syndrome. | Cordelli DM et al. | — | 2021 | → |
| A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat-Wilson syndrome. | Hu Y et al. | — | 2020 | → |
| Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome. | Ayyildiz Emecen D et al. | — | 2020 | → |
| Genotype-phenotype analysis in Mowat-Wilson syndrome associated with two novel and two recurrent <b><i>ZEB2</i></b> variants. | Zou D et al. | — | 2020 | → |
| Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report. | Nosaki Y et al. | — | 2020 | → |
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