Q2 Quick Note #05: Gene Effects Only Partly Explain KCNQ2-DEE Developmental Challenges
Published on December 9, 2025
A new study found that for people with KCNQ2–DEE, the severity of their variant’s effect on Kv7.2 channel function was only modestly correlated with the severity of their developmental symptoms.
What It’s About
Researchers reviewed medical records from 48 people with KCNQ2-DEE and assigned each person a score based on their non-seizure challenges, including mobility, communication, hand use, eating, scoliosis, and vision problems. They also studied cells that carried each person’s KCNQ2 variant to determine how much each variant affected the Kv7.2 channel’s function. When they compared these results, there was only a modest link between the variant’s effect on the channel and the developmental score.
Why It Matters
These findings suggest that the gene variant doesn’t predict every aspect of a child’s development in KCNQ2-DEE. Other factors matter too, which can help explain why people with similar variants can have different outcomes.
The Quick Term
Correlation: A relationship between two things that indicates how they tend to move together. On hotter days, people usually buy more ice cream, so ice cream sales and air temperature tend to correlate.
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