Article
Rare dysfunctional SCN2A variants are associated with malformation of cortical development.
Epilepsia - 1 Mar 2025
Clatot Jérôme, Thompson Christopher H, Sotardi Susan, Jiang Jinan, Trivisano Marina, Balestrini Simona, Ward D Isum, Ginn Natalie, Guaragni Brunetta, Malerba Laura, Vakrinou Angeliki, Sherer Mia, Helbig Ingo, Somarowthu Ala, Sisodiya Sanjay M, Ben-Shalom Roy, Guerrini Renzo, Specchio Nicola, George Alfred L, Goldberg Ethan M
Abstract excerpt
OBJECTIVE: SCN2A encodes the voltage-gated sodium (Na+) channel α subunit NaV1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders. However, the mechanisms whereby variation in SCN2A leads to disease remains incompletely understood, and the full spectrum of SCN2A-related...
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