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: 5288T>A

PubMed Link: 35087721

Variant Present in the following documents:

• jer-21019.pdf

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Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.

Frontiers In Neurology

Jang, Se Song SS; Kim, Soo Yeon SY; Kim, Hunmin H; Hwang, Hee H; Chae, Jong Hee JH; Kim, Ki Joong KJ; Kim, Jong-Il JI; Lim, Byung Chan BC

Publication Date: 2019

Variant appearance in text: SCN1A: 5288T>A; Ile1763Asn

PubMed Link: 31572294

Variant Present in the following documents:

• Main text
• fneur-10-00988.pdf

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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: I1763N

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: SCN1A: I1763N

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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