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SCN2A
SCN2A is a gene that plays a critical role in how the brain develops and functions. When SCN2A is altered, through a variant that makes its protein overactive or underactive, it can cause a range of serious neurological conditions, including epilepsy, developmental delay, intellectual disability, movement disorders, and autism. Severity and presentation vary widely depending on the type of variant.
DEE
SCN2A-related disorders are one of the leading known genetic causes of developmental and epileptic encephalopathy, DEE for short. DEE describes a group of conditions where seizure activity and the underlying brain difference both contribute to developmental challenges.
Six plain-English explainers.
Click any tile for the full page. Each is clinician-reviewed and family-focused.
SCN2A-related disorders
What happens when the SCN2A gene is altered, the biology, the range of conditions it can cause, and how presentations differ.
What is DEE?
Developmental and epileptic encephalopathy explained, what the term means and why it matters.
Genetics & diagnosis
Genetic testing, what a diagnosis means, and how to read your results, in plain language.
Seizure types
The seizure types commonly associated with SCN2A, and why variant type matters for treatment decisions.
Developmental considerations
Communication, motor, cognitive, sleep, what families notice and what helps.
Carer support & wellbeing
Caring for a child with DEE is one of the hardest things a person can do. Practical support, peer connection, mental-health resources.
Information sheets, free, multilingual.
SCN2A, DEE, genetics, treatment, genetic testing, gene therapy, available to download free, including translations in Korean, Chinese, Hindi, and Japanese.