Article
Voltage-Gated Sodium Channel NaV1.2: Structural Perspective of the Genetic Variability.
Biochemical genetics - 1 Aug 2026
Oliveira-Madureira Tomás, Leal Bárbara, Azevedo Luísa
Abstract excerpt
The SCN2A gene encodes the alpha subunit of a voltage-gated sodium channel which is necessary for creating and propagating action potentials in neurons. Impairment of the Nav1.2 function is associated with neurodevelopmental disorders such as Developmental and Epileptic Encephalopathy, Self-limited Neonatal/Infantile Seizures, and Autism Spectrum Disorder. In this study, we used orthologous sequence comparisons,...
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