SCN2A

SCN2A is a gene that encodes the alpha subunit of the voltage-gated sodium channel, a protein complex that plays a crucial role in the generation and propagation of action potentials in neurons and muscle. This gene is located on the long arm of chromosome 2 (2q24.3) and is composed of 26 exons. Mutations in the SCN2A gene have been associated with a variety of neurological disorders, including benign familial neonatal-infantile seizures, epileptic encephalopathy, and autism spectrum disorder.

Function

The SCN2A gene encodes the alpha subunit of the voltage-gated sodium channel, which is responsible for the initiation and propagation of action potentials in neurons and muscle. This protein is a critical component of the neuronal excitability and conduction velocity.

Clinical significance

Mutations in the SCN2A gene have been implicated in a variety of neurological disorders. These include:

• Benign familial neonatal-infantile seizures: This is a rare autosomal dominant disorder characterized by seizures that begin in the first days of life and resolve by 12 months of age.

• Epileptic encephalopathy: This is a severe form of epilepsy that is often associated with intellectual disability and developmental delay.

• Autism spectrum disorder: Some studies have found an increased frequency of SCN2A mutations in individuals with autism, suggesting a potential role in the pathogenesis of this disorder.

See also

• Voltage-gated ion channel
• Action potential
• Neuron
• Muscle
• Chromosome 2
• Benign familial neonatal-infantile seizures
• Epileptic encephalopathy
• Autism spectrum disorder

References

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