Publications:

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN1A: R1575C

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Frontiers In Neurology

Ding, Jiangwei J; Li, Xinxiao X; Tian, Haiyan H; Wang, Lei L; Guo, Baorui B; Wang, Yangyang Y; Li, Wenchao W; Wang, Feng F; Sun, Tao T

Publication Date: 2021

Variant appearance in text: SCN1A: R1575C

PubMed Link: 35002916

Variant Present in the following documents:

• Main text
• fneur-12-743726.pdf

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Unraveling the enigma of new-onset refractory status epilepticus: a systematic review of aetiologies.

European Journal Of Neurology

Lattanzi, Simona S; Leitinger, Markus M; Rocchi, Chiara C; Salvemini, Sergio S; Matricardi, Sara S; Brigo, Francesco F; Meletti, Stefano S; Trinka, Eugen E

Publication Date: 2022-02

Variant appearance in text: SCN1A: R1575C

PubMed Link: 34661330

Variant Present in the following documents:

• Main text
• ENE-29-626.pdf

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: SCN1A: 4723C>T; R1575C; rs121918807

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

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The Role of the Persistent Sodium Current in Epilepsy.

Epilepsy Currents

Wengert, Eric R ER; Patel, Manoj K MK

Publication Date: 2021

Variant appearance in text: SMEI: R1575C

PubMed Link: 33236643

Variant Present in the following documents:

• Main text
• 10.1177_1535759720973978.pdf

View BVdb publication page

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Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.

Molecular Genetics & Genomic Medicine

Lee, Jiwon J; Lee, Chung C; Ki, Chang-Seok CS; Lee, Jeehun J

Publication Date: 2020-09

Variant appearance in text: SCN1A: 4723C>T

PubMed Link: 32613771

Variant Present in the following documents:

• Main text
• MGG3-8-e1376.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: SCN1A: 4723C>T; Arg1575Cys; rs121918807

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic characteristics of non-familial epilepsy.

Peerj

Kang, Kyung Wook KW; Kim, Wonkuk W; Cho, Yong Won YW; Lee, Sang Kun SK; Jung, Ki-Young KY; Shin, Wonchul W; Kim, Dong Wook DW; Kim, Won-Joo WJ; Lee, Hyang Woon HW; Kim, Woojun W; Kim, Keuntae K; Lee, So-Hyun SH; Choi, Seok-Yong SY; Kim, Myeong-Kyu MK

Publication Date: 2019

Variant appearance in text: SCN1A: Arg1575Cys

PubMed Link: 31875159

Variant Present in the following documents:

• Main text
• peerj-07-8278-s002.xlsx, sheet 1

View BVdb publication page

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How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.

Neurology

Tan, Rhea Y Y RYY; Traylor, Matthew M; Megy, Karyn K; Duarte, Daniel D; Deevi, Sri V V SVV; Shamardina, Olga O; Mapeta, Rutendo P RP; , ; Ouwehand, Willem H WH; Gräf, Stefan S; Downes, Kate K; Markus, Hugh S HS

Publication Date: 2019-11-26

Variant appearance in text: rs121918807

PubMed Link: 31719132

Variant Present in the following documents:

• NEUROLOGY2019966051.pdf

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Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.

Plos One

Lee, Cha Gon CG; Lee, Jeehun J; Lee, Munhyang M

Publication Date: 2018

Variant appearance in text: SCN1A: Arg1575Cys

PubMed Link: 29924869

Variant Present in the following documents:

• Main text
• pone.0199321.pdf

View BVdb publication page

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High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.

Experimental & Molecular Medicine

Cho, Sung-Yup SY; Park, Changho C; Na, Deukchae D; Han, Jee Yun JY; Lee, Jieun J; Park, Ok-Kyoung OK; Zhang, Chengsheng C; Sung, Chang Ohk CO; Moon, Hyo Eun HE; Kim, Yona Y; Kim, Jeong Hoon JH; Kim, Jong Jae JJ; Khang, Shin Kwang SK; Nam, Do-Hyun DH; Choi, Jung Won JW; Suh, Yeon-Lim YL; Kim, Dong Gyu DG; Park, Sung Hye SH; Youn, Hyewon H; Yun, Kyuson K; Kim, Jong-Il JI; Lee, Charles C; Paek, Sun Ha SH; Park, Hansoo H

Publication Date: 2017-04-14

Variant appearance in text: SCN1A: R1575C; rs121918807

PubMed Link: 28408749

Variant Present in the following documents:

• emm20179x1.xlsx, sheet 4

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: R1575C; rs121918807

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: R1575C

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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