Meyahealth
Home
ENES
HomeGeneticsGeneSCN2A gene
Back to Gene

SCN2A gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SCN2A gene

The SCN2A gene is responsible for creating sodium channels in the brain that regulate neuronal communication, with variants linked to various forms of epilepsy and developmental disorders.

Normal Function

The SCN2A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged atoms (ions) of sodium into cells, play a key role in a cell's ability to generate and transmit electrical signals.

The SCN2A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.2. These channels are primarily found in the brain, where they control the flow of sodium ions into nerve cells (neurons). The flow of sodium ions through NaV1.2 channels helps determine when neurotransmitters will be released to facilitate communication between neurons.

Health Conditions Related to Genetic Changes

Epilepsy of infancy with migrating focal seizures

Variants in the SCN2A gene can cause epilepsy of infancy with migrating focal seizures (EIMFS). This condition is typically characterized by recurrent seizures that begin before the age of 6 months, often accompanied by significant developmental delays.

Other disorders

  • SCN2A-developmental and epileptic encephalopathy: A group of disorders characterized by developmental delays and seizures that typically begin early in life. Additional signs can include low muscle tone (hypotonia), difficulty feeding, behavioral disorders, abnormal movements, and intellectual disabilities.
  • Benign familial infantile seizures (BFIE): Also called self-limited infantile epilepsy (SeLIE), this condition involves seizures beginning between 3 and 20 months of age. In most affected individuals, development is normal, and seizures can typically be managed with medication.

Other Names for This Gene

  • NAC2
  • NAV1.2
  • SCN2A1
  • SCN2A2
  • sodium channel, brain type II, alpha subunit
  • sodium channel, voltage gated, type II alpha subunit
  • sodium channel, voltage-gated, type II, alpha 1 polypeptide
  • sodium channel, voltage-gated, type II, alpha 2 polypeptide
  • sodium channel, voltage-gated, type II, alpha subunit
  • sodium voltage-gated channel, alpha subunit 2

Frequently Asked Questions

Children with SCN2A‑related encephalopathy may experience delays in speech, motor skills, and social interaction. Parents should track milestones such as sitting, walking, first words, and eye contact, and report any regression or plateau to the pediatric neurologist for early intervention services.
SCN2A mutations can be either gain‑of‑function or loss‑of‑function. Gain‑of‑function variants often respond better to sodium‑channel blockers (e.g., phenytoin, carbamazepine), whereas loss‑of‑function variants may worsen with these drugs and may require alternative agents like levetiracetam or valproate. A neurologist will adjust therapy based on the specific mutation.
The diagnosis usually involves a trio‑based whole‑exome or targeted gene panel that includes SCN2A. The test is performed on a blood sample and results are interpreted by a clinical geneticist. Early identification helps tailor seizure management and anticipate developmental outcomes.
Research is exploring targeted sodium‑channel modulators, antisense oligonucleotides, and gene‑editing approaches. Families can inquire about ongoing trials through epilepsy foundations or the NIH’s clinical trial registry, and participation may offer access to novel therapies.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.