Predictive precision medicine efforts for voltage-gated sodium channel genetic variants-Reference-Cited by-同舟云学术

Predictive precision medicine efforts for voltage-gated sodium channel genetic variants

Published:2022-10-31 Issue:12 Volume:145 Page:4148-4150
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Mantegazza Massimo¹²³^ORCID,Cestèle Sandrine¹²^ORCID

Affiliation:

1. University Cote d’Azur , 06560, Valbonne-Sophia Antipolis , France

2. CNRS UMR 7275, Institute of Molecular and Cellular Pharmacology (IPMC) , 06560, Valbonne-Sophia Antipolis , France

3. Inserm , 06560, Valbonne-Sophia Antipolis , France

Abstract

This scientific commentary refers to ‘Gene variant effects across sodium channelopathies predict function and guide precision therapy’ by Brunklaus et al. (https://doi.org/10.1093/brain/awac006).

Funder

Fondation Jérôme Lejeune

Fondazione Famiglie Dravet ONLUS

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awac397/47077616/awac397.pdf

Reference10 articles.

1. Gene variant effects across sodium channelopathies predict function and guide precision therapy;Brunklaus;Brain,2022

2. Pharmacogenomics in epilepsy;Balestrini;Neurosci Lett,2018

3. Enabling precision oncology through precision diagnostics;Brown;Annu Rev Pathol,2020

4. A roadmap for precision medicine in the epilepsies;EpiPM Consortium;Lancet Neurol,2015

5. Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy;Holland;Epilepsia,2017

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1. Voltage‐gated sodium channels in genetic epilepsy: up and down of excitability;Journal of Neurochemistry;2023-08-31