Blog

Many potassium channel gene mutations are reportedly associated with genetic forms of epilepsy, such as progressive myoclonic epilepsy (PME). In 2007, a homozygous mutation of the gene encoding potassium channel tetramerization domain-containing protein 7 (KCTD7) was first reported in three siblings from a consanguineous family with PME with autosomal recessive inheritance1. PME associated with KCTD7 mutations has been reported in 42 patients from 33 families to date2,3. Here, we describe one Chinese girl presenting with paroxysmal non-epileptic myoclonus that was thought to be dystonia, asynchronous epileptic discharge which were not seen simultaneously with the motor manifestations on electroencephalogram (EEG) (Fig.