Publications:

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Frontiers In Neurology

Gonsales, Marina C MC; Montenegro, Maria Augusta MA; Preto, Paula P; Guerreiro, Marilisa M MM; Coan, Ana Carolina AC; Quast, Monica Paiva MP; Carvalho, Benilton S BS; Lopes-Cendes, Iscia I

Publication Date: 2019

Variant appearance in text: SCN1A: 602C>A; A201E

PubMed Link: 31001185

Variant Present in the following documents:

• Table_2.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: 602C>A; Ala201Glu

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.

Journal Of Clinical Neurology (Seoul, Korea)

Do, Thi Thu Hang TT; Vu, Diem My DM; Huynh, Thi Thuy Kieu TT; Le, Thi Khanh Van TK; Sohn, Eun Hwa EH; Le, Thieu Mai Thao TM; Ha, Huu Hao HH; Bui, Chi Bao CB

Publication Date: 2017-01

Variant appearance in text: SCN1A: 602C>A

PubMed Link: 28079314

Variant Present in the following documents:

• Main text
• jcn-13-62.pdf

View BVdb publication page