Article

Excitatory Dysfunction and Phenotypic Rescue in a Human Neuronal Model of <i>SCN2A</i> -Related Disorders

2026-05-19

Abstract excerpt

SCN2A -related disorders result from pathogenic variants in the gene encoding for the voltage-gated sodium channel Nav1.2. Collectively, these disorders result in variable age of onset epilepsy, autism spectrum disorder, and epileptic encephalopathies. While the mechanisms of haploinsufficiency resulting in autism spectrum disorder have been explored in detail, few studies report the impact of pathogenic missense...

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Literature Corpus work: 586382b0-efbd-5d1b-a36c-915fb0106ea2
DOI: 10.64898/2026.05.18.725745

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