Below is a summary for the SCN2A gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about SCN2A such as the chance of having another child with this condition, behavior and development concerns linked to SCN2A-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
This latest report includes updated information about Simons Searchlight participants with SCN2A-related disorder using insights by families like yours. This report features a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL).
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View all reports below by clicking on “Previous Registry Reports” at the bottom of this page.
What are SCN2A -related disorders?
SCN2A -related disorders happen when there are changes to the SCN2A gene. These changes can keep the gene from working as it should.
SCN2A -related disorders include SCN2A -developmental and epileptic encephalopathy and self-limited neonatal/infantile epilepsy.
The SCN2A gene produces a protein that sits on the surface of brain cells and allows sodium to enter the cell. This protein is important for brain cells to make and transmit signals between cells. The protein is essential for these brain cells to work properly.
Because the SCN2A gene is important in the development and function of brain cells, many people who have SCN2A -related disorders have:
- Developmental delay, or intellectual disability, or both
- Autism or features of autism
- Movement problems
- Lower than average muscle tone
- Gastrointestinal problems
- Brain changes seen on magnetic resonance imaging (MRI)
How many people have SCN2A -related disorders?
As of 2023, about 360 people in the world with changes in the SCN2A gene have been included in medical research. The first case of SCN2A -related disorders was described in 2002. Scientists expect to find more people who have these disorders as access to genetic testing improves.
Research Article Summaries
Previous Registry Reports