Ilaria Mosca, Elena Freri, Paolo Ambrosino, Giorgio Belperio, Tiziana Granata, Laura Canafoglia, Francesca Ragona, Roberta Solazzi, Ilaria Filareto, Barbara Castellotti, Giuliana Messina, Cinzia Gellera, Jacopo C DiFrancesco, Maria Virginia Soldovieri, Maurizio Taglialatela
Variants in KCNT1 are associated with a wide spectrum of epileptic phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), non-EIMFS developmental and epileptic encephalopathies, autosomal dominant or sporadic sleep-related hypermotor epilepsy, and focal epilepsy. Here, we describe a girl affected by drug-resistant focal seizures, developmental delay and behavior disorders, caused by a novel, de novo heterozygous missense KCNT1 variant (c.2809A > G, p.S937G). Functional characterization in transiently transfected Chinese Hamster Ovary (CHO) cells revealed a strong gain-of-function effect determined by the KCNT1 p...
2024: Frontiers in Cellular Neuroscience