Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome

Objective: We aimed to improve the classification of SCN1A missense variants in patients with Dravet syndrome (DS) by combining and modifying the current variants classification criteria to minimize inconclusive test results.Methods: We established a score classification workflow based on evidence o...

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Bibliographic Details
Main Authors: Marina C. Gonsales, Maria Augusta Montenegro, Paula Preto, Marilisa M. Guerreiro, Ana Carolina Coan, Monica Paiva Quast, Benilton S. Carvalho, Iscia Lopes-Cendes
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-03-01
Series:Frontiers in Neurology
Subjects:
epileptic encephalopathy
ion channel gene defects
clinical genetic testing
variants of uncertain significance
VUS
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2019.00289/full

Internet

https://www.frontiersin.org/article/10.3389/fneur.2019.00289/full

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