A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy

Developmental and epileptic encephalopathies (DEE) are a heterogenous group of conditions characterized by the co‐occurrence of epilepsy and intellectual/developmental disability. Despite several known DEE‐related genes, including these encoding ion channels, still many cases remain without molecular diagnosis. Here, we present a 2‐year‐old girl with severe DEE in whom whole exome sequencing revealed de novo p.(Val471Leu) variant in the KCNC2...