News Finding: The degree of mental disability and related problems was greater in the latter group.
Paper Finding: Two further individuals presented with a different and more severe epileptic encephalopathy phenotype.
News Context: For patients with increased function, however, epileptic seizures began even earlier and recurred into adulthood. The degree of mental disability and related problems was greater in the latter group. For patients whose potassium flows are too high, there is an immediate treatment option in the form of 4-aminopyridine, an approved drug which specifically blocks the relevant ion channel.
Paper Context: Functional studies of the two mutations associated with this phenotype showed almost complete loss of function with a dominant-negative effect. Two further individuals presented with a different and more severe epileptic encephalopathy phenotype. They carried mutations inducing a drastic gain-of-function effect leading to permanently open channels.