Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy-Reference-Cited by-同舟云学术

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Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy

Published:2017-05-18 Issue:7 Volume:58 Page:1190-1198
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Holland Katherine D.¹²³,Bouley Thomas M.,Horn Paul S.¹²³

Affiliation:

1. Departments of Pediatrics and Neurology; University of Cincinnati College of Medicine; Cincinnati Ohio U.S.A

2. Division of Child Neurology; Cincinnati Children's Hospital Medical Center; Cincinnati Ohio U.S.A

3. McMicken College of Arts and Sciences; University of Cincinnati; Cincinnati Ohio U.S.A

Funder

National Institutes of Health

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.13798/fullpdf

Reference34 articles.

1. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1;Carvill;Nat Genet,2013

2. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis;Trump;J Med Genet,2016

3. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood;Mercimek-Mahmutoglu;Epilepsia,2015

4. De novo mutations in epileptic encephalopathies;Epi;Nature,2013

5. Advancing epilepsy genetics in the genomic era;Myers;Genome Med,2015

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1. Structural mapping of patient-associated KCNMA1 gene variants;Biophysical Journal;2023-12

2. Structural mapping of patient-associatedKCNMA1gene variants;2023-07-28

3. Predictive precision medicine efforts for voltage-gated sodium channel genetic variants;Brain;2022-10-31

4. Identification of a Novel Mutation in CTCF in a Family with MRD21;2022-10-06

5. Severe epilepsy phenotype with SCN1A missense variants located outside the sodium channel core region: Relationship between functional results and clinical phenotype;Seizure;2022-10

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