The SCN2A gene is located on the long (q) arm of chromosome 2 at position 24.3. 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. When there is a deletion or mutation of this gene it has been identified to cause autism, epilepsy, and other neurological issues such as movement disorders, dystonia, and dysautonomia.

Seizures and epilepsy are not the same. An epileptic seizure is a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Epilepsy is a disease characterized by an enduring predisposition to generate epileptic seizures and by the neurobiological, cognitive, psychological, and social consequences of this condition. Translation: a seizure is an event and epilepsy is the disease involving recurrent unprovoked seizures.

Research has shown genetic changes of the SCN2A gene are linked to a diagnosed of Autism. Studies have discovered de novo mutations in SCN2A are linked to neurodevelopmental phenotypes which include: intellectual disability, autism, and schizophrenia.