Publications:

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Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan.

Genetics Research

Ashfaq, Aqsa A; Saleem, Tayyaba T; Sheikh, Nadeem N; Maqbool, Hafsa H

Publication Date: 2022

Variant appearance in text: rs121918809

PubMed Link: 35136380

Variant Present in the following documents:

• Main text
• GR2022-1168703.pdf

View BVdb publication page

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Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan.

Genetics Research

Ashfaq, Aqsa A; Saleem, Tayyaba T; Sheikh, Nadeem N; Maqbool, Hafsa H

Publication Date: 2022

Variant appearance in text: rs121918809

PubMed Link: 35136380

Variant Present in the following documents:

• Main text
• GR2022-1168703.pdf

View BVdb publication page

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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research

Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S

Publication Date: 2017-10

Variant appearance in text: SCN1A: 5266T>G; Cys1756Gly

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

View BVdb publication page

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Genetic and epigenetic mechanisms of epilepsy: a review.

Neuropsychiatric Disease And Treatment

Chen, Tian T; Giri, Mohan M; Xia, Zhenyi Z; Subedi, Yadu Nanda YN; Li, Yan Y

Publication Date: 2017

Variant appearance in text: SCN1A: C1756G

PubMed Link: 28761347

Variant Present in the following documents:

• Main text
• ndt-13-1841.pdf

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: C1756G

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SMEI: C1756G; rs121918809

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN1A: C1756G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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