Clinical Characteristics

The most common symptoms of SCN2A mutations are epilepsy, developmental delay/ intellectual disability, autism spectrum disorders and abnormalities of movement and muscle tone, although these are not present in all individuals.

There are a number of distinct SCN2A-related disorders, with differences in the number and types of symptoms experienced, severity of the condition and response to treatment. An extensive description of these can be found in the Professionals – Clinical characteristics section.

It is recommended that individuals with a SCN2A related condition are supported by a multidisciplinary team including a paediatrician or disability physician expert in the management of neurodevelopmental disorders and, if neurological symptoms such as seizures or movement disorders are present, a neurologist.