Dravet syndrome
Conditions
Interventions
Dravet syndrome SCN1A pathogenic gene mutation group:none
Healthy control group:none
Sponsors
Senior department of Pediatrics, Chinese PLA General Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Test group: (1) Male and female, age 2-18 years. (2) Dravet syndrome was diagnosed and had SCN1A gene mutation. (3) The legal guardian of the subject must be willing and able to complete the relevant examination, test and sign the written informed consent. Control group: (1) All ages, normal phenotype, no SCN1A gene mutation. (2) The legal guardian of the subject should be able to communicate well with the investigator, comply with the relevant regulations of the study, and sign written informed consent.
Exclusion criteria
Exclusion criteria: 1. There are uncontrollable infections. 2. Unable to cooperate with the study. 3. Participants had participated in any clinical study within 3 months before enrollment. 4. According to the evaluation of the investigator, those who were deemed unsuitable for inclusion for various other reasons.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| iPSC; | — |
Countries
China
Contacts
Public ContactLi-Ping Zou
Senior department of Pediatrics, Chinese PLA General Hospital
Outcome results
None listed