This figure shows how KCNA2 mutations change brain activity. Gain-of-Function (top, yellow) makes neurons overactive and fire too much, too soon. Loss-of-Function (bottom, purple) weakens the brain’s braking system and can’t stop signals properly. Both disrupt balance and can lead to seizures.
Understanding KCNA2

Understanding A Gain-of-Function (GoF) KCNA2 Diagnosis

When someone you love is diagnosed with KCNA2, one of the first things you may hear is that the variation […]

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