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: Thr199Serfs*15

PubMed Link: 35087721

Variant Present in the following documents:

• jer-21019.pdf

View BVdb publication page

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: 596_602del; Thr199fs

PubMed Link: 31572294

Variant Present in the following documents:

• Main text
• fneur-10-00988.pdf

View BVdb publication page

Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations.

Journal Of Clinical Neurology (Seoul, Korea)

Cho, Min Jung MJ; Kwon, Soon Sung SS; Ko, Ara A; Lee, Seung Tae ST; Lee, Young Mock YM; Kim, Heung Dong HD; Chung, Hee Jung HJ; Kim, Se Hee SH; Lee, Joon Soo JS; Kim, Dae Sung DS; Kang, Hoon Chul HC

Publication Date: 2018-01

Variant appearance in text: SCN1A: T199SfsX15

PubMed Link: 29141279

Variant Present in the following documents:

• Main text
• jcn-14-22.pdf

View BVdb publication page

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: Thr199SerfsX15

PubMed Link: 28664031

Variant Present in the following documents:

• Main text

View BVdb publication page