Anne T Berg, Christopher H Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans, Ariela J E Kaiser, Katherine Paltell, Amanda N Nili, Jean-Marc DeKeyser, Tatiana V Abramova, Gerry Nesbitt, Shawn Egan, Carlos G Vanoye, Alfred L George
SCN2A-related disorders secondary to altered function in the voltage-gated sodium channel NaV1.2 are rare with clinically heterogeneous expressions that include epilepsy, autism, and multiple severe to profound impairments and other conditions. To advance understanding of the clinical phenotypes and their relation to channel function, 81 patients (36, 44% female, median age 5.4 years) with 69 unique SCN2A variants were systematically phenotyped and their NaV1.2 channel function systematically assessed. Participants were recruited through the FamileSCN2A Foundation...
April 23, 2024: Brain