GNAO1 mutation-associated encephalopathy
Conditions
Interventions
Case series:N/A
Sponsors
Shenzhen Children's Hospital
Eligibility
Sex/Gender
All
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: 1. Patients with informed consent from themselves and the patient's parents or guardians; 2. Aged < 18 years; 3. Patients with mutations in the GNAO1 gene identified by clinical genetic sequencing and classified as "possibly pathogenic" or "pathogenic" according to the American College of Medical Genetics and Genomics (ACMG) guidelines.
Exclusion criteria
Exclusion criteria: 1. Patients with pathogenic mutations or abnormal chromosomes; 2. Patients with incomplete medical history and incomplete clinical information.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The form and frequency of epilepsy and movement disorders; | — |
Secondary
| Measure | Time frame |
|---|---|
| The report of gene;Electroencephalogram;Head magnetic resonance imaging; | — |
Countries
China
Contacts
Public ContactYanmei Li / Dezhi Cao
Shenzhen Children's Hospital
Outcome results
None listed