The Role of Genetic Factors in the Development of Epilepsy in the Kazakh Population

Preventive and Personalized Medicine (2021-2023)

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

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

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.