Neurology Department (Shenzhen Children's Hospital), SZCH
General information
Personnel
- jing duan, Genetic Counselor
Phone: +8618938691709
Email: [email protected] - Sufang Lin, Principal Investigator
Phone: +8618938691028
Email: [email protected] - qi zeng, Principal Investigator
Phone: +8619925192785
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 67
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Benign Neonatal Epilepsy | 1 | Feb 20, 2022 |
| Benign familial infantile epilepsy | 9 | Feb 20, 2022 |
| Early infantile epileptic encephalopathy with suppression bursts | 34 | Feb 20, 2022 |
| Epilepsy of infancy with migrating focal seizures | 2 | Feb 20, 2022 |
| Febrile seizure (within the age range of 3 months to 6 years) | 1 | Feb 20, 2022 |
| Generalized epilepsy with febrile seizures plus | 1 | Feb 20, 2022 |
| Intellectual disability, autosomal dominant 55, with seizures | 1 | Jun 13, 2023 |
| Seizures, benign familial infantile, 3 | 3 | Feb 20, 2022 |
| Severe myoclonic epilepsy in infancy | 1 | Feb 20, 2022 |
| Spinocerebellar ataxia 47 | 1 | Oct 8, 2021 |
| Tuberous sclerosis 2 | 1 | Apr 19, 2022 |
| West syndrome | 23 | Feb 20, 2022 |