Publications:

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Efficacy of Anti-seizure Medications, Quinidine, and Ketogenic Diet Therapy for KCNT1-Related Epilepsy and Genotype-Efficacy Correlation Analysis.

Frontiers In Neurology

Lin, Zehong Z; Sang, Tian T; Yang, Ying Y; Wu, Yuan Y; Dong, Yan Y; Ji, Taoyun T; Zhang, Yuehua Y; Wu, Ye Y; Gao, Kai K; Jiang, Yuwu Y

Publication Date: 2021

Variant appearance in text: KCNT1: 1546A>G

PubMed Link: 35116000

Variant Present in the following documents:

• Main text
• fneur-12-834971.pdf

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Double-edged Role of KNa Channels in Brain Tuning: Identifying Epileptogenic Network Micro-Macro Disconnection.

Current Neuropharmacology

Liu, Ru R; Sun, Lei L; Wang, Yunfu Y; Jia, Meng M; Wang, Qun Q; Cai, Xiang X; Wu, Jianping J

Publication Date: 2022

Variant appearance in text: KCNT1: Met516Val

PubMed Link: 34911427

Variant Present in the following documents:

• CN-20-916.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: KCNT1: 1546A>G; Met516Val

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Precision medicine and therapies of the future.

Epilepsia

Sisodiya, Sanjay M SM

Publication Date: 2021-03

Variant appearance in text: KCNT1: 1546A>G; M516V

PubMed Link: 32776321

Variant Present in the following documents:

• Main text
• EPI-62-S90.pdf

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Intellectual Disability and Potassium Channelopathies: A Systematic Review.

Frontiers In Genetics

Kessi, Miriam M; Chen, Baiyu B; Peng, Jing J; Tang, Yulin Y; Olatoutou, Eleonore E; He, Fang F; Yang, Lifen L; Yin, Fei F

Publication Date: 2020

Variant appearance in text: KCNT1: M516V

PubMed Link: 32655623

Variant Present in the following documents:

• Main text
• fgene-11-00614.pdf

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The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel.

Frontiers In Cellular Neuroscience

Mao, Xiao X; Bruneau, Nadine N; Gao, Quwen Q; Becq, Hélène H; Jia, Zhengjun Z; Xi, Hui H; Shu, Li L; Wang, Hua H; Szepetowski, Pierre P; Aniksztejn, Laurent L

Publication Date: 2020

Variant appearance in text: Slo2.2: Met516Val

PubMed Link: 32038177

Variant Present in the following documents:

• Main text
• fncel-14-00001.pdf

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Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.

Neurology. Genetics

Barcia, Giulia G; Chemaly, Nicole N; Kuchenbuch, Mathieu M; Eisermann, Monika M; Gobin-Limballe, Stéphanie S; Ciorna, Viorica V; Macaya, Alfons A; Lambert, Laetitia L; Dubois, Fanny F; Doummar, Diane D; Billette de Villemeur, Thierry T; Villeneuve, Nathalie N; Barthez, Marie-Anne MA; Nava, Caroline C; Boddaert, Nathalie N; Kaminska, Anna A; Bahi-Buisson, Nadia N; Milh, Mathieu M; Auvin, Stéphane S; Bonnefont, Jean-Paul JP; Nabbout, Rima R

Publication Date: 2019-12

Variant appearance in text: KCNT1: M516V

PubMed Link: 31872048

Variant Present in the following documents:

• Main text
• NG2018009845.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: KCNT1: 1546A>G; Met516Val

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: KCNT1: M516V

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.

Frontiers In Cellular Neuroscience

Villa, Chiara C; Combi, Romina R

Publication Date: 2016

Variant appearance in text: KCNT1: Met516Val

PubMed Link: 27064559

Variant Present in the following documents:

• Main text
• fncel-10-00081.pdf

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