Wilson Disease, Generalized Epilepsy
Conditions
Keywords
Chinese, clinical features, generalized epilepsy, outcome, Wilson's disease
Brief 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.
Interventions
GENETICgenetic test
Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA)
Sponsors
Second Affiliated Hospital, School of Medicine, Zhejiang University
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Each patient was diagnosed with WD by clinical evaluation and genetic screening and had ever experienced generalized epilepsy
Exclusion criteria
* Not WD & without generalized epilepsy
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of participants with treatment stop seizures attacks | 12 month | After standard treatment, the patients would stop attacks and get improved. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of participants with treatment have improved brain MRI | 12 month | After standard treatment, the abnormalities of brain MRI would get better in patients. |
Countries
China
Outcome results
None listed