A Unique Case of SCN2A Variant-Associated Catatonia and Response to Electroconvulsive Therapy.

Abstract excerpt

ABSTRACT: The SCN2A gene encodes a subunit that forms part of voltage-gated sodium channels in the brain. Gain-of-function mutations are associated with epilepsy as well as numerous movement/motor abnormalities. Loss-of-function mutations may also cause epilepsy in addition to a variety of neurodevelopmental anomalies, including autism and intellectual disability. The occurrence of catatonia has also been...

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