SCN2A Polymorphisms Are Associated With Response to Valproic Acid in Paediatric Population(Pakistan)

SCN2A, rs2304016 Polymorphisms Are Associated With Response to Valproic Acid in Paediatric Epilepsy Patients (Pakistan)

The goal of this Observational study was to identify the effect of SCN2A gene polymorphism in the Paediatric epileptic Pakistani population. The main question it aims to answer is:

to evaluate the effect of this genetic polymorphism on the clinical efficacy of Valproic acid

Participants were prescribed Valproic acid after diagnosis of epilepsy.

This observational study aimed to identify the effect of SCN2A rs2304016 gene polymorphism in the Paediatric epileptic population.

The main question it aims to answer is:

• to evaluate the effect of this genetic polymorphism on the clinical efficacy of Valproic acid

The participants' blood samples were taken and further genotyping was performed using conventional tetraARMS PCR. The results were visualized by gel electrophoresis.

Inclusion Criteria:

• Epileptic Pakistani individuals of age between 1 to 12 years of either sex
• Each patient had experienced two or more clinically confirmed, spontaneous epileptic seizures in the past.
• Newly diagnosed patients started VPA 20 mg/kg (drug of the same brand was used for every patient throughout the study).

Exclusion Criteria:

• Patients taking any other anti-epileptic drug.
• Patients taking medications that interact with VPA.
• Patients with moderate or severe systemic diseases