Genetic Variants and Antiseizure Medication Response in Turkish Epilepsy Patients

Targeted sequencing of 29 Turkish epilepsy patients identified 15 genetic variants in SCN1A, SCN1B, and CACNA2D2 genes. The pilot study found preliminary associations between specific genotypes and antiseizure drug response, though results did not survive multiple testing correction. The data was published by figshare admin karger in April 2026.

Use Cases

• Analyze the association between the SCN1A rs2298771 TT genotype and improved antiseizure medication response using the recessive model.
• Investigate the link between the CACNA2D2 rs56287038 T allele and drug resistance in the allelic model.
• Perform haplotype analysis on SCN1A variants (e.g., rs2298771, rs2020318, rs1461193) to assess combined effects on treatment outcome.
• Replicate the reported associations for haplotypes like CTG (rs2298771+rs2020318+rs1461193) in independent epilepsy cohorts.
• Use the 15 listed genetic variants as candidate markers for building predictive models of antiseizure medication efficacy.

Strengths

• Contains genotype and haplotype data for 15 specific genetic variants across three ion channel genes.
• Provides statistical p-values for associations between specific variants/haplotypes and drug response phenotypes.

Limitations

• Very small sample size of only 29 patients, limiting statistical power and generalizability.
• Reported associations did not remain statistically significant after false discovery rate correction.
• Dataset size is 230.1 KB, indicating limited raw data, likely summary statistics and text.

Provenance

Source

figshare admin karger

Collection Method

Targeted next-generation sequencing (tNGS) applied to genomic DNA from patients.

Freshness

Last updated in April 2026.

Geography

Turkish patient population.