Q2 Quick Note #02: Genetic Testing Finds Four People with KCNQ2 Variants in DEE Cohort
Published on November 10, 2025
Researchers in Turkey used genetic testing to look for causes of DEE. Four people had KCNQ2 variants, making it one of the most commonly affected genes found.
What It’s About
Scientists used a targeted gene panel on 129 people who showed signs of DEE and found four of them had KCNQ2 variants. They determined the type of each variant, what part of the channel the variant affected, and what symptoms each person had. All four had early-onset seizures, and one had autism-like features.
Why It Matters
Finding the exact genetic changes helps doctors understand how different KCNQ2 variants affect a person. This helps researchers connect genotypes (the specific gene change) to the phenotype (the symptoms a person shows). The more we learn about these patterns, the better we can predict outcomes and inform treatments.
The Quick Term
Targeted Gene Panel: A genetic test that looks at a specific set of genes known to be linked to a certain disease (in this case, DEE)
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