Molecular and cellular context influences SCN8A variant function-Reference-Cited by-同舟云学术

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Molecular and cellular context influences SCN8A variant function

Published:2024-05-21 Issue:12 Volume:9 Page:
ISSN:2379-3708
Container-title:JCI Insight
language:en
Short-container-title:

Author:

Vanoye Carlos G.^ORCID,Abramova Tatiana V.,DeKeyser Jean-Marc,Ghabra Nora F.,Oudin Madeleine J.,Burge Christopher B.,Helbig Ingo^ORCID,Thompson Christopher H.,George Alfred L.^ORCID

Funder

NIH

Publisher

American Society for Clinical Investigation

Link

https://insight.jci.org/articles/view/177530/files/pdf

Reference48 articles.

1. Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders

2. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

3. Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress

4. Prophecy or empiricism? Clinical value of predicting versus determining genetic variant functions

5. SCN8Aencephalopathy: Research progress and prospects

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Protein isoform-centric therapeutics: expanding targets and increasing specificity;Nature Reviews Drug Discovery;2024-09-04

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