Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature
Sign Up to like & getrecommendations! Published in 2020 at "Brain and Development"
DOI: 10.1016/j.braindev.2019.09.004
Abstract: SCN3A was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. We present two additional patients with a novel de novo SCN3A pathogenic variant, and a review of all published cases of de… read more here.
Keywords: scn3a pathogenic; disorder associated; disorder; novo scn3a ... See more keywords