News Finding: The researchers discovered that the mutations disrupt the ion channel's function either by cutting the flow of potassium, leading to a loss of function; or by increasing potassium flow, leading to an excess gain of function.
Paper Finding: These results establish KCNA2 as a new gene involved in human neurodevelopmental disorders through two different mechanisms, predicting either hyperexcitability or electrical silencing of K V 1.2-expressing neurons.
News Context: The researchers discovered that the mutations disrupt the ion channel's function either by cutting the flow of potassium, leading to a loss of function; or by increasing potassium flow, leading to an excess gain of function. Patients demonstrating a loss of function had their first epileptic seizures starting at the age of around one, but the attacks ceased during childhood or in the patient's teenage years. For patients with increased function, however, epileptic seizures began even earlier and recurred into adulthood.
Paper Context: They carried mutations inducing a drastic gain-of-function effect leading to permanently open channels. These results establish KCNA2 as a new gene involved in human neurodevelopmental disorders through two different mechanisms, predicting either hyperexcitability or electrical silencing of K V 1.2-expressing neurons. Therefore, potassium channel genes represent interesting candidates for neurodevelopmental disorders.