News Finding: For patients with increased function, however, epileptic seizures began even earlier and recurred into adulthood.
Paper Finding: Two further individuals presented with a different and more severe epileptic encephalopathy phenotype.
News Context: 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 patientaEUR(tm)s teenage years. 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.
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.