Below is a summary for the SCN2A gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
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What is SCN2A-related syndrome?
SCN2A-related syndrome happens when there are changes to the SCN2A gene. These changes can keep the gene from working as it should.
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 syndrome have:
- Developmental delay, or intellectual disability, or both
- Autism or features of autism
- Movement problems
- Low muscle tone
- Gastrointestinal problems
Do people who have SCN2A-related syndrome look different?
People who have SCN2A-related syndrome generally don’t look different.
How many people have SCN2A-related syndrome?
As of 2019, about 200 people in the world with changes in the SCN2A gene have been described in medical research. The first case of SCN2A-related syndrome was described in 2002. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
How is SCN2A-related syndrome treated?
Epilepsy is common in people who have SCN2A-related syndrome. In some cases, seizures that are linked to SCN2A-related conditions cannot be controlled. But, for infants whose seizures begin before 3 months of age, a class of medication known as sodium channel blockers, such as phenytoin and carbamazepine, may be helpful (Wolff et al., 2017). Note that this is the opposite of best practice guidelines for neonatal seizures.
Children who have autism and developmental delay whose seizures begin after 12 months of age respond best to a different set of medications, including levetiracetam, benzodiazepines, and valproate.
Seizures are common: About 15 percent of people who have the syndrome have benign infantile seizures. More than one-third have early infantile
onset epilepsy. Less than 10 percent have epilepsy with unknown age of onset.
DEVELOPMENT and BEHAVIOR
Sixteen percent of people who have the syndrome have autism or intellectual disability without seizures.
Research Article Summaries