Publications:

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: 4216G>A; Ala1406Thr

PubMed Link: 35087721

Variant Present in the following documents:

• jer-21019.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: 4216G>A; Ala1406Thr

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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Large-scale structural alteration of brain in epileptic children with SCN1A mutation.

Neuroimage. Clinical

Lee, Yun-Jeong YJ; Yum, Mi-Sun MS; Kim, Min-Jee MJ; Shim, Woo-Hyun WH; Yoon, Hee Mang HM; Yoo, Il Han IH; Lee, Jiwon J; Lim, Byung Chan BC; Kim, Ki Joong KJ; Ko, Tae-Sung TS

Publication Date: 2017

Variant appearance in text: SCN1A: Ala1406Thr

PubMed Link: 28664031

Variant Present in the following documents:

• Main text

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