Electrical Status Epilepticus Sleep (ESES) and Seizure Characteristics Among Individuals with Mowat-wilson Syndrome
Abstract number :
3.117
Submission category :
12. Genetics / 12A. Human Studies
Year :
2024
Submission ID :
136
Source :
www.aesnet.org
Presentation date :
12/9/2024 12:00:00 AM
Published date :
Authors :
Presenting Author: Mongkol Chanvanichtrakool, MD – Mahidol university
Rachel Weaver, M.S – Children National hospital
Taylor Haughton, MS – Children National hospital
John Schreiber, MD – Children’s National Hospital, George Washington University School of Medicine & Health Sciences, Washington, DC
Rationale: Mowat-Wilson syndrome (MWS) is a hereditary autosomal dominant disorder resulting from a pathogenic mutation or deletion in the ZEB2 gene. Epilepsy is common in MWS, present in over 70%, and about one third develop electrical status epilepticus of sleep (ESES). Currently, there are few studies regarding seizures and ESES in MWS. Therefore, we examined seizure phenotype, occurrence of ESES, and treatment response in MWS.
Methods: Individuals diagnosed with MWS with confirmed mutation or deletion affecting ZEB2 and who had an EEG including sleep were enrolled in this study between 2022 and 2024. We conducted in-person or remote interviews with parents/ caregivers and reviewed all relevant medical records to collect information about the patient's seizure characteristics, presence of ESES, antiseizure medications (ASMs), EEG results, MRI findings, and comorbidities. We sought and reviewed EEG recordings whenever available to confirm findings and calculate spike-wave index. We defined ESES as the presence of spike-wave discharges occupying more than 50% of one-second bins during sleep, based on a review of EEG recordings (when available) or reports.
Results: Twenty-eight individuals with MWS enrolled in this study. The epilepsy rate in our population was 93%, with a mean onset of 23 months (SD = 15 months). The most common seizure type was focal motor seizures (54%), followed by generalized tonic-clonic seizures (38%). Half of the individuals experienced multiple seizure types. Febrile seizures were present in 61%.The most utilized ASMs were levetiracetam, followed by clobazam, with a favorable response rate of 64% and 75%, respectively. ESES was identified in 30% of individuals, while developmental regression was reported in 40%. However, these groups did not overlap significantly; there was no significant association between developmental regression and ESES (p = 0.78).
Conclusions: Our study provides valuable insight into seizure characteristics and ESES in MWS. We also present data on treatment response. We did not find a relationship between reported developmental regression and ESES, though we are performing additional developmental assessments in this cohort of patients to provide a more objective measure of developmental outcome in MWS and how those may relate to ESES.
Funding: This study was funded by the Mowat Wilson Syndrome Foundation.
Genetics