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: 5126C>T; Thr1709Ile

PubMed Link: 35087721

Variant Present in the following documents:

• jer-21019.pdf

View BVdb publication page

---

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN1A: T1709I

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

View BVdb publication page

---

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: 5126C>T; Thr1709Ile

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

View BVdb publication page

---

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: T1709I

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SMEI: T1709I; rs121918629

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN1A: T1709I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

The European Journal Of Neuroscience

Volkers, Linda L; Kahlig, Kristopher M KM; Verbeek, Nienke E NE; Das, Joost H G JH; van Kempen, Marjan J A MJ; Stroink, Hans H; Augustijn, Paul P; van Nieuwenhuizen, Onno O; Lindhout, Dick D; George, Alfred L AL; Koeleman, Bobby P C BP; Rook, Martin B MB

Publication Date: 2011-10

Variant appearance in text: SCN1A: T1709I

PubMed Link: 21864321

Variant Present in the following documents:

• Main text

View BVdb publication page

---

(What to do) when epilepsy gene mutations stop making sense.

Epilepsy Currents

Cooper, Edward C EC

Publication Date: 2007

Variant appearance in text: SCN1A: T1709I

PubMed Link: 17304347

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

The Journal Of Physiology

Rhodes, Thomas H TH; Vanoye, Carlos G CG; Ohmori, Iori I; Ogiwara, Ikuo I; Yamakawa, Kazuhiro K; George, Alfred L AL

Publication Date: 2005-12-01

Variant appearance in text: SCN1A: T1709I

PubMed Link: 16210358

Variant Present in the following documents:

• Main text

View BVdb publication page

---