IndraLab
Statements
reach
"Gain-of-function (GoF) variants of SCN2A are closely associated with unprovoked seizures and epilepsy, whereas loss-of-function (LoF) or protein-truncating variants of SCN2A (collectively referred to as Na 1.2 deficiency) are leading genetic causes of autism spectrum disorder (ASD) and intellectual disability (ID) (Hoischen et al., 2014; Johnson et al., 2016; Sanders et al., 2012; Satterstrom et al., 2020; Wang et al., 2016a)."