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

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 Na(V)1.2. Ma...

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Bibliografiske detaljer
Udgivet i:J Gen Physiol
Main Authors: Thompson, Christopher H., Ben-Shalom, Roy, Bender, Kevin J., George, Alfred L.
Format: Artigo
Sprog:Inglês
Udgivet: Rockefeller University Press 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7054859/
https://ncbi.nlm.nih.gov/pubmed/31995133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1085/jgp.201912442
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