SCN2A-related disorders

SCN2A-related disorders are a group of rare neurodevelopmental disorders caused by pathogenic variants in the SCN2A gene, which encodes a subunit of the voltage-gated sodium channel NaV1.2. Mutations in the SCN2A gene can cause a broad spectrum of disorders collectively referred to as SCN2A-related disorders. These include cases of autism, self-limited epilepsy, early infantile developmental and epileptic encephalopathy, later onset developmental and epileptic encephalopathy, infantile spasms, SCN2A-related disorders without epilepsy, episodic ataxia, and further movement disorders.

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