Early onset epileptic encephalopathy caused by de novo <i><scp>SCN</scp>8A</i> mutations

Abstract

Our data reveal that SCN8A mutations can cause variable phenotypes, most of which can be diagnosed as unclassified EOEEs, and rarely as MMPSI. Together with previous reports, our study further indicates that genetic testing of SCN8A should be considered in children with unclassified severe epilepsy.