Many physicians and families have questions about SCN2A. Our goal is to build & partner with open resources to answer those questions that are not yet answered.
The SCN2A disease causes a range of conditions that broadly include the following:
SCN2A related Epilepsy
SCN2A related Autism
Overlapping SCN2A related Autism & Epilepsy
9,000 - 14,000 estimated new cases per year globally.
SCN2A is one of the most common causes of neurodevelopmental disease and occurs in people of all ages and genders. In the US, current estimates are between 240 - 360 new cases per year - with these numbers expected to grow as genetic testing becomes more prevalent once targeted towards the autistic communities.
For comparison, there are around 220,000 new cases of lung cancer and 22 million diagnoses of diabetes each year. So it’s easy to understand how and why current physicians may not have as much experience treating or knowing about SCN2A related diseases.
The symptoms associated with SCN2A mutations can vary depending on the specific mutation and the severity of the condition. Some of the common symptoms associated with SCN2A-related disorders include:
Seizures: This is one of the most common symptoms of SCN2A-related disorders. Seizures can range from mild to severe, and can be of different types, such as tonic-clonic, absence, or myoclonic seizures.
Developmental delay: Children with SCN2A-related disorders may have delayed milestones in speech, motor, and cognitive development.
Intellectual disability: Some individuals with SCN2A mutations may have intellectual disability, which is characterized by significant limitations in cognitive functioning and adaptive behavior.
Autistic features: Individuals with SCN2A mutations may have features of autism spectrum disorder, such as difficulty with social interactions, communication, and repetitive behaviors.
Movement disorders: Some individuals with SCN2A mutations may have movement disorders such as ataxia (incoordination of movement) or dyskinesia (abnormal movements)
Other symptoms: Other symptoms that may be associated with SCN2A-related disorders include sleep disturbances, headaches, and behavioral problems.
It's important to note that not all individuals with SCN2A mutations will have all of these symptoms, and the severity of the symptoms can vary widely from person to person. Additionally, these symptoms can overlap with other conditions, so a genetic testing and a detailed clinical evaluation is needed for proper diagnosis.
All children with unprovoked seizures or an autism diagnosis should pursue genetic testing to see if you have genetically related neurodevelopmental disorder.
Tests to understand and better treat the variety of symptoms that result from SCN2A related diseases include:
Genetic testing: The definitive diagnosis of an SCN2A-related disorder can be made through genetic testing. Genetic testing can identify mutations in the SCN2A gene, which can confirm the diagnosis and provide important information about the severity and prognosis of the condition.
Electroencephalogram (EEG): This test records the electrical activity of the brain, which can help identify abnormal patterns associated with seizures.
Magnetic resonance imaging (MRI): This test can produce detailed images of the brain, which can help identify any structural abnormalities that may be associated with an SCN2A-related disorder.
Depending on the presentation, other tests might be needed such as blood tests, metabolic tests, and neuroimaging studies.
Treatments of SCN2A-related disorders can be challenging, as the symptoms and severity can vary widely from person to person. Current treatment options may include:
Anti-epileptic drugs (AED’s) - The choice of AED will depend on the specific type of seizures, and the patient's response to the medication. Those diagnosed with autism and having seizures after their first year of life should generally stay away from sodium channel blocking drugs.
The ketogenic diet: A high-fat, low-carbohydrate diet that has been found to be effective in controlling seizures in some individuals with epilepsy.
Behavioral therapy: individuals with SCN2A-related disorders may benefit from behavioral therapy such as ABA / Verbal Behavior / Pivotal Response to help manage behavioral, emotional, or communicative challenges.
Developmental Therapies: Physical therapy, occupational therapy, and speech therapy can help individuals with SCN2A-related disorders improve their motor, cognitive, and communication skills.
Treatment plans should be tailored to an individual's specific needs and symptoms and should be reviewed periodically to make sure it is still the best option. A multidisciplinary approach with a geneticist, neurologist, pediatrician, and other specialists is often recommended for proper diagnosis and management.
Additionally, new therapies and treatments are being developed and researched, so it's important to keep up-to-date with the latest developments. Our goal is be to consistently on top of these developments as the arise.