Epilepsy
Conditions
Keywords
GWAS
Brief summary
This is a GWAS study that aims to identify possible candidate genes associate to epilepsy by exploring single nucleotide polymorphism (SNP) in a group of epilepsy, in the Kazakh population. The investigators hypothesize that the careful phenotyping of the subject sand matching with increase the power to find SNP significantly associate with epilepsy
Detailed description
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases. The method involves scanning the genomes from many different people and looking for genetic markers that can be used to predict the presence of a disease. Once such genetic markers are identified, they can be used to understand how genes contribute to the disease and develop better prevention and treatment strategies
Interventions
GENETICDNA analysis
GWAS
Sponsors
Asfendiyarov Kazakh National Medical University
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
0 Years to 5 Years
Inclusion criteria
* Children with seizures, confirmed by EEG and no morphological damage to the brain, confirmed by MRI of the brain; * The age of the patients is from 0 to 5 years; * Persons of Kazakh nationality, whose paternal and maternal grandparents are Kazakhs; * Children are parents or legal guardians who have given written informed consent.
Exclusion criteria
* Children over 5 years old; * Children whose parents, according to the researcher, are mentally or legally incapacitated, which prevents obtaining informed consent; * Children with seizures with brain damage that cause epilepsy; * Children of a non-Kazakh ethnic group.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| number of SNPs associated with epilepsy | 1 year | Using GWAS to identify candidate genes associate with epilepsy |
Countries
Kazakhstan
Outcome results
None listed