Publications:

Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies.

Frontiers In Pediatrics

Sun, Dan D; Liu, Yan Y; Cai, Wei W; Ma, Jiehui J; Ni, Kun K; Chen, Ming M; Wang, Cheng C; Liu, Yongchu Y; Zhu, Yuanyuan Y; Liu, Zhisheng Z; Zhu, Feng F

Publication Date: 2021

Variant appearance in text: SCN1A: 5164A>G; T1722A

PubMed Link: 34055682

Variant Present in the following documents:

• Main text
• fped-09-635703.pdf

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Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Frontiers In Pharmacology

Menezes, Luis Felipe Santos LFS; Sabiá Júnior, Elias Ferreira EF; Tibery, Diogo Vieira DV; Carneiro, Lilian Dos Anjos LDA; Schwartz, Elisabeth Ferroni EF

Publication Date: 2020

Variant appearance in text: SCN1A: T1722A

PubMed Link: 33013363

Variant Present in the following documents:

• Main text
• fphar-11-01276.pdf

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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: 5164A>G; Thr1722Ala

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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Incidence of Dravet Syndrome in a US Population.

Pediatrics

Wu, Yvonne W YW; Sullivan, Joseph J; McDaniel, Sharon S SS; Meisler, Miriam H MH; Walsh, Eileen M EM; Li, Sherian Xu SX; Kuzniewicz, Michael W MW

Publication Date: 2015-11

Variant appearance in text: SCN1A: 5164A>G; Thr1722Ala

PubMed Link: 26438699

Variant Present in the following documents:

• Main text

View BVdb publication page