News Finding: The fact that both excessive opening or entire blockage of the K v 1.2 channel can lead to epilepsy, corroborate the hypothesis that a very fine balance of potassium levels seems to be essential for proper brain functioning.
Paper Finding: Four individuals presented with febrile and multiple afebrile, often focal seizure types, multifocal epileptiform discharges strongly activated by sleep, mild to moderate intellectual disability, delayed speech development and sometimes ataxia.
News Context: "What astonished us however, is that some patients carried mutations that caused the channel to always stay open. The fact that both excessive opening or entire blockage of the K v 1.2 channel can lead to epilepsy, corroborate the hypothesis that a very fine balance of potassium levels seems to be essential for proper brain functioning. According to Patrick May, these findings also underline the importance of Systems Biomedicine approaches.
Paper Context: Using next-generation sequencing, we identified four different de novo mutations in KCNA2, encoding the potassium channel K V 1.2, in six isolated patients with epileptic encephalopathy (one mutation recurred three times independently). Four individuals presented with febrile and multiple afebrile, often focal seizure types, multifocal epileptiform discharges strongly activated by sleep, mild to moderate intellectual disability, delayed speech development and sometimes ataxia. Functional studies of the two mutations associated with this phenotype showed almost complete loss of function with a dominant-negative effect.