{Reference Type}: Case Reports
{Title}: Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature.
{Author}: Inuzuka LM;Macedo-Souza LI;Della-Ripa B;Cabral KSS;Monteiro F;Kitajima JP;de Souza Godoy LF;de Souza Delgado D;Kok F;Garzon E;
{Journal}: Brain Dev
{Volume}: 42
{Issue}: 2
{Year}: Feb 2020
{Factor}: 2.272
{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 novo variants. In one of our patients brain magnetic resonance imaging (MRI) disclosed a severe polymicrogyria and in the other it was normal. The clinical phenotype was characterized by a severe developmental delay and refractory epilepsy in the patient with polymicrogyria and intellectual disability with autistic features and pharmacoresponsive epilepsy in the subject with normal MRI. Polymicrogyria, a disorder of progenitor cells proliferation and migration, is an unanticipated finding for an ion channel dysfunction.