Original paper
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
Abstract
Deleterious variants in the voltage-gated sodium channel type 2 (Nav1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (DEE) and intellectual disability (ID) to autism spectrum disorders (ASD). Yet, the underlying mechanisms are still incompletely understood.To further elucidate the genotype-phenotype correlation of SCN2A variants we...
Paper Details
Title
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
Published Date
Feb 27, 2019
Journal
Volume
25
Issue
1
Citation AnalysisPro
You’ll need to upgrade your plan to Pro
Looking to understand the true influence of a researcher’s work across journals & affiliations?
- Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
- Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.
Notes
History