An increasing number of developmental and epileptic encephalopathies have been correlated with variants of ion channel genes, and in particular of potassium channels genes, such as KCNA1, KCNA2, KCNB1, KCNQ2, KCTD7 and KCNT1. Here we report a child with an early severe developmental and epileptic encephalopathy, spastic tetraplegia, opisthotonos attacks. The whole exome sequencing showed the de novo heterozygous variant c.1411G > C (p.Val471Leu) in the KCNC2 gene. Although this is, to our knowledge, the first case of encephalopathy associated with a KCNC2 gene variant, and further confirmatory studies are needed, previous preclinical and clinical evidence seems to suggest that KCNC2 is a new candidate epilepsy gene.
|Number of pages||6|
|Journal||European Journal of Medical Genetics|
|Publication status||Published - 2020|
All Science Journal Classification (ASJC) codes
Roccella, M., Romano, V., Amato, C., Vinci, M., Calì, F., Solazzi, R., Vetri, L., Freri, E., Granata, T., & Elia, M. (2020). A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy. European Journal of Medical Genetics, 63, 1-6.