Work

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Year: 2025

Type: article

Abstract: OBJECTIVE: To summarize the electro-clinical and genetic characteristics of children with Mowat-Wilson syndrome (MWS). METHODS: This study is a hospital-based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024. Information on seizures, electroencephalographic features, genetic characteristics, treatment, and prognosis was summarized and analyzed using descriptive statistics. RESULTS: Among the 31 children (16 males and 15 females), seizure onset occurred at a median age of 25.5 months (range: 1-113 months). Eighteen cases (58.1%, 18/31) began with fever-induced seizures; all 31 children experienced focal seizures, and 16 (51.6%, 16/31) exhibited atypical seizure presentations. Twelve (38.7%, 12/31) experienced seizures accompanied by gastrointestinal (GI) symptoms. Two children had myoclonic seizures, one had epileptic spasms, and another had atypical absence seizures. Ten (32.3%, 10/31) experienced convulsive status epilepticus. Electroencephalographic findings evolved from posterior head-dominant discharges to multifocal or anterior head-dominant discharges, with a significant increase in discharges during sleep. All 31 children had de novo ZEB2 variants, including 27 with single-nucleotide variants (SNVs) or insertions/deletions (indels) and four with copy number variants. Among the SNVs/indels, nonsense (13) and frameshift (12) variants predominated. One patient with rare seizures did not receive anti-seizure medication (ASM). Thirty received ASMs; both levetiracetam and valproic acid, used as monotherapy or in combination, proved effective. Sixteen children achieved seizure control for more than 6 months, and seven maintained seizure control for over 1 year. SIGNIFICANCE: Our findings reveal the electro-clinical characteristics, genetic variants, and effective treatments associated with MWS, providing an important basis for clinical diagnosis and management.

Source: Epileptic Disorders

DOI: 10.1002/epd2.70149

Authors: Yi Ju, Tao‐yun Ji

Institution: Peking University First Hospital

Language: English

Topic: Epilepsy research and treatment

Subfield: Psychiatry and Mental health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $2,430