Drug-resistant Epilepsy derived from Different Gene Mutations
Conditions
Interventions
Group of SCN1A gene mutation:No
Group of TSC2 gene mutation:No
Group of SCN2A gene mutation:No
Group of CDKL5 gene mutation:No
Group of TSC1 gene mutation:No
Group of KCNQ2 gene mutation:No
Group of MT-TL1 gene mutation:No
Group of SLC2A1 gene mutation:No
Group of SCN8A gene mutation:No
Group of SPTAN1 gene mutation:No
Sponsors
Department of Neurology, Shenzhen Children’s Hospital
Eligibility
Sex/Gender
All
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: 1. Children with drug-resistant epilepsy caused by single gene/single mitochondrial gene mutation; 2. They were not seizure-free after using two or more anti-seizure medications (ASMs); 3. By June 30, 2021, KD duration >=1 month, KD follow-up time >=1 month; 4. The child's age at the initiation of KD was 0 months to 18 years old.
Exclusion criteria
Exclusion criteria: 1.No pathogenic genes were detected, or several pathogenic genes of epilepsy were detected; 2.Patients with genetic metabolic diseases and other contraindications to KD therapy; 3.Patients were excluded from participation if they had severe diseases of vital organs; 4.We excluded children lacking primary medical records after KD and whose parents disagreed.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| seizure frequency;athletic ability;intelligence;Language Skills; | — |
Countries
China
Contacts
Public ContactLiao Jianxiang
Shenzhen Children’s Hospital
Outcome results
None listed