Publications:

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The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.

Journal Of Epilepsy Research

Ko, Young Jun YJ; Yoo, Il Han IH; Lee, Jiwon J; Lee, Jeehun J; Yum, Mi-Sun MS; Ko, Tae-Sung TS; Kim, Hunmin H; Hwang, Hee H; Kim, Soo Yeon SY; Chae, Jong-Hee JH; Choi, Ji-Eun JE; Kim, Ki Joong KJ; Lim, Byung Chan BC

Publication Date: 2021-12

Variant appearance in text: SCN1A: 4822G>T; Asp1608Tyr

PubMed Link: 35087721

Variant Present in the following documents:

• jer-21019.pdf

View BVdb publication page

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Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

Frontiers In Neuroscience

Fernández-Marmiesse, Ana A; Roca, Iria I; Díaz-Flores, Felícitas F; Cantarín, Verónica V; Pérez-Poyato, Mª Socorro MS; Fontalba, Ana A; Laranjeira, Francisco F; Quintans, Sofia S; Moldovan, Oana O; Felgueroso, Blanca B; Rodríguez-Pedreira, Montserrat M; Simón, Rogelio R; Camacho, Ana A; Quijada, Pilar P; Ibanez-Mico, Salvador S; Domingno, Mª Rosario MR; Benito, Carmen C; Calvo, Rocío R; Pérez-Cejas, Antonia A; Carrasco, Mª Llanos ML; Ramos, Feliciano F; Couce, Mª Luz ML; Ruiz-Falcó, Mª Luz ML; Gutierrez-Solana, Luis L; Martínez-Atienza, Margarita M

Publication Date: 2019

Variant appearance in text: SCN1A: 4822G>T; D1608Y; rs121917915

PubMed Link: 31780880

Variant Present in the following documents:

• Main text
• fnins-13-01135.pdf

View BVdb publication page

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Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.

Channels (Austin, Tex.)

Nakajima, Tadashi T; Kaneko, Yoshiaki Y; Dharmawan, Tommy T; Kurabayashi, Masahiko M

Publication Date: 2019-12

Variant appearance in text: SCN1A: D1608Y

PubMed Link: 31357904

Variant Present in the following documents:

• Main text
• kchl-13-01-1649521.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: 4822G>T; Asp1608Tyr

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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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: D1608Y

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: D1608Y; rs121917915

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: D1608Y

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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Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.

Human Mutation

Xu, Xiaojing X; Yang, Xiaoxu X; Wu, Qixi Q; Liu, Aijie A; Yang, Xiaoling X; Ye, Adam Yongxin AY; Huang, August Yue AY; Li, Jiarui J; Wang, Meng M; Yu, Zhe Z; Wang, Sheng S; Zhang, Zhichao Z; Wu, Xiru X; Wei, Liping L; Zhang, Yuehua Y

Publication Date: 2015-09

Variant appearance in text: SCN1A: 4822G>T

PubMed Link: 26096185

Variant Present in the following documents:

• Main text
• HUMU-36-861.pdf

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Clinical application of exome sequencing in undiagnosed genetic conditions.

Journal Of Medical Genetics

Need, Anna C AC; Shashi, Vandana V; Hitomi, Yuki Y; Schoch, Kelly K; Shianna, Kevin V KV; McDonald, Marie T MT; Meisler, Miriam H MH; Goldstein, David B DB

Publication Date: 2012-06

Variant appearance in text: SCN1A: D1608Y

PubMed Link: 22581936

Variant Present in the following documents:

• Main text
• jmedgenet-2012-100819.pdf

View BVdb publication page

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