To date there are only two publications describing three affected individuals with KCNT2-related encephalopathy (MIM #617771). All children had a developmental and epileptic encephalopathy (DEE), with some features overlapping with those seen in children with a KCNT1-related encephalopathy (MIM #608167). Thus, we are still learning about the range of clinical presentations, underlying pathophysiology and optimal treatments for this condition.
KCNT2