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Article

Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants.

The Journal of general physiology - 2 Mar 2020

Thompson Christopher H, Ben-Shalom Roy, Bender Kevin J, George Alfred L

Abstract excerpt

Epileptic encephalopathies are severe forms of infantile-onset epilepsy often complicated by severe neurodevelopmental impairments. Some forms of early-onset epileptic encephalopathy (EOEE) have been associated with variants in SCN2A, which encodes the brain voltage-gated sodium channel NaV1.2. Many voltage-gated sodium channel genes, including SCN2A, undergo developmentally regulated mRNA splicing. The early...

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Identifiers

PMID: 31995133
DOI: 10.1085/jgp.201912442
PMCID: PMC7054859

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