A new genetic cause for a progressive form of epilepsy identified

17 noviembre 2014

An international research consortium has discovered a new gene underlying progressive myoclonus epilepsy, one of the most devastating forms of epilepsy. The study showed that a single mutation in a potassium ion channel gene underlies a substantial proportion of unsolved cases. It is estimated that the mutation is carried by hundreds of patients worldwide. The study utilized modern DNA sequencing technologies, which have revolutionized genetic research of rare, severe diseases.