SCN2A
Description
The SCN2A gene provides instructions for making a protein called alpha 2 subunit of the sodium channel, a crucial component of nerve cells. This protein helps regulate the flow of sodium ions across nerve cell membranes, essential for transmitting electrical signals. Mutations in SCN2A can disrupt this process, leading to a range of neurological disorders.
Associated Diseases
- Dravet Syndrome
- Infantile Spasms
- Epilepsy
- Intellectual Disability
- Autism Spectrum Disorder
- Developmental Delay
Did you know?
Mutations in SCN2A are one of the most common genetic causes of severe epilepsy, particularly Dravet Syndrome.
