NCT04965571

Clinical Features and Outcome of Wilson's Disease With Generalized Epilepsy in Chinese Patients

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 13 (actual)
• Sponsor: Second Affiliated Hospital, School of Medicine, Zhejiang University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

Generalized epilepsy is rarely reported in patients with Wilson disease (WD) and lacks experience in clinical practice. We aim to provide better experience for the diagnosis and treatment for WD patients with epilepsy in the future.

Detailed description

A retrospective study was performed in 13 Chinese WD patients with generalized epilepsy. Each patient was diagnosed with WD by clinical evaluation and genetic screening. Patients were given small doses of antiepileptic drugs (AEDs), followed by copper-chelation therapy when the seizures stabilized. Clinical manifestations, brain imaging changes, and treatment and outcome after a long-term follow-up were analyzed.

Conditions

• Wilson Disease
• Generalized Epilepsy

Interventions

Type	Name	Description
GENETIC	genetic test	Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA)

Timeline

• Start date: 2010-09-01
• Primary completion: 2017-09-01
• Completion: 2019-03-01
• First posted: 2021-07-16
• Last updated: 2021-07-16

Locations

1 site across 1 country: China