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

Pub. Date : 2020 Mar 2

PMID : 31995133






3 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 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. Sodium sodium voltage-gated channel alpha subunit 2 Homo sapiens
2 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. Sodium sodium voltage-gated channel alpha subunit 2 Homo sapiens
3 Many voltage-gated sodium channel genes, including SCN2A, undergo developmentally regulated mRNA splicing. Sodium sodium voltage-gated channel alpha subunit 2 Homo sapiens