Frequently Asked Questions

The following are some of the most frequently asked questions associated with KCNQ2.

KCNQ is shorthand for the category of disorders caused by variants in the KCNQ2 gene. The KCNQ2 gene codes for the potassium channel, a structure on the surface of neurons responsible for regulating the electrical signals sent from the brain throughout the body. A variant in the KCNQ2 gene can cause disorders of varying severity and that are described with various names. This includes KCNQ2 epilepsy (which describes the seizure activity which is associated with the variant), KCNQ2 encephalopathy (which describes the developmental delays associated with the variant), or KCNQ2 developmental and epileptic encephalopathy (which describes both the seizures and developmental delays associated with the variant). The latter term is becoming the accepted name that best describes the characteristics of our community

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