Publications:

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Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene.

Frontiers In Genetics

Sharkov, Artem A; Sparber, Peter P; Stepanova, Anna A; Pyankov, Denis D; Korostelev, Sergei S; Skoblov, Mikhail M

Publication Date: 2022

Variant appearance in text: SCN1A: 379C>G; His127Asp

PubMed Link: 35711923

Variant Present in the following documents:

• Main text
• fgene-13-888481.pdf

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: SCN1A: H127D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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

Frontiers In Neurology

Gonsales, Marina C MC; Montenegro, Maria Augusta MA; Preto, Paula P; Guerreiro, Marilisa M MM; Coan, Ana Carolina AC; Quast, Monica Paiva MP; Carvalho, Benilton S BS; Lopes-Cendes, Iscia I

Publication Date: 2019

Variant appearance in text: SCN1A: 379C>G; H127D

PubMed Link: 31001185

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: SCN1A: 379C>G; His127Asp

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SCN1A: 379C>G; His127Asp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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

Epilepsia

Holland, Katherine D KD; Bouley, Thomas M TM; Horn, Paul S PS

Publication Date: 2017-07

Variant appearance in text: SCN1A: H127D

PubMed Link: 28518218

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: Nav1.1: H127D

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: SCN1A: H127D

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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