Publications:

The NESHIE and CP Genetics Resource (NCGR): A database of genes and variants reported in neonatal encephalopathy with suspected hypoxic ischemic encephalopathy (NESHIE) and consequential cerebral palsy (CP).

Genomics

Holborn, Megan A MA; Ford, Graeme G; Turner, Sarah S; Mellet, Juanita J; van Rensburg, Jeanne J; Joubert, Fourie F; Pepper, Michael S MS

Publication Date: 2022-10-18

Variant appearance in text: SCN1A: 4172A>G

PubMed Link: 36270382

Variant Present in the following documents:

• mmc6.xlsx, sheet 1
• mmc11.xlsx, sheet 1
• mmc5.xlsx, sheet 1

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: SCN1A: 4172A>G

PubMed Link: 34887858

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

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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: 4172A>G; Asn1391Ser

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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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: N1391S

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page