A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy

Autor: Vetri, Luigi, Calì, Francesco, Vinci, Mirella, Amato, Carmelo, Roccella, Michele, Granata, Tiziana, Freri, Elena, Solazzi, Roberta, Romano, Valentino, Elia, Maurizio
Zdroj: In European Journal of Medical Genetics April 2020 63(4)
Databáze: ScienceDirect