SCN2A encodes instructions to make a protein in the brain called a sodium channel which plays a key role in a cell’s ability to generate and transmit electrical signals. Pathogenic variants that affect the SCN2A sodium channel impair the flow of sodium ions in the brain.

SCN2A is one of the genes most commonly associated with early-onset epilepsy, and has recently been linked to autism spectrum disorder and developmental delay. SCN2A encodes a neuronal voltage gated sodium channel, NaV1.2 that is primarily found in excitatory neurons throughout the brain.

All children with SCN2A-related disorders have a pathogenic variant (“mutation”) in the gene SCN2A, which encodes the instructions to make a protein in the brain called a sodium channel. Pathogenic variants that affect the SCN2A sodium channel …

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four domains including 24 transmembrane segments and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle.

In this study, the phenotypic spectrum, treatment, and prognosis of epilepsy children with SCN2A variants were studied in a Chinese cohort from two pediatric clinical centers.

SCN2A encodes the neuronal sodium channel Na V 1.2. Functional assays demonstrate strong correlation between genotype and phenotype. This insight can help guide therapeutic decisions and raises the possibility that ligands that selectively enhance or diminish channel function may improve symptoms.

SCN2A encodes the major α subunit (Na v 1.2) of voltage-gated sodium channels in excitatory neurons. 1 We first identified inherited mutations in SCN2A in the self-limited autosomal dominant epilepsy syndrome, benign familial neonatal infantile seizures (BFNIS). 2,3

Apr 26, 2024 · CHICAGO --- A genetic change or variant in a gene called SCN2A is a known cause of infantile seizures, autism spectrum disorder and intellectual disability, as well as a wide range of other moderate-to-profound impairments in mobility, communication, eating and vision.

Mar 30, 2025 · Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder.

SCN2A encodes an alpha subunit in a voltage-gated sodium channel and is pivotal for neuronal signaling. However, functional aspects remain to be elucidated and there is currently no good mouse model available.