Publications:

Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy.

Epilepsia Open

Tsang, Mandy Ho-Yin MH; Leung, Gordon Ka-Chun GK; Ho, Alvin Chi-Chung AC; Yeung, Kit-San KS; Mak, Christopher Chun-Yu CC; Pei, Steven Lim-Cho SL; Yu, Mullin Ho-Chung MH; Kan, Anita Sik-Yau AS; Chan, Kelvin Yuen-Kwong KY; Kwong, Karen Ling KL; Lee, So-Lun SL; Yung, Ada Wing-Yan AW; Fung, Cheuk-Wing CW; Chung, Brian Hon-Yin BH

Publication Date: 2019-03

Variant appearance in text: SCN1A: 4507G>A

PubMed Link: 30868116

Variant Present in the following documents:

• Main text
• EPI4-4-63.pdf

View BVdb publication page

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: 4507G>A; Glu1503Lys

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: E1503K

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page