Pyridoxine-dependent epilepsy
Conditions
Interventions
Case group:no
Sponsors
Neonatal intensive care unit of the Faculty of Pediatrics, the Seventh Medical Center of PLA General Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Epilepsy; 2. Pyridoxine treatment is effective; 3. The genetic diagnosis is clear.
Exclusion criteria
Exclusion criteria: Genetic testing for non-ALDH7A1 and PLPBP mutations.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| epileptic seizure; | — |
Countries
China
Contacts
Public ContactYang Changshuan
Neonatal intensive care unit of the Faculty of Pediatrics, the Seventh Medical Center of PLA General Hospital
Outcome results
None listed