Publications:

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: 1429G>A

PubMed Link: 35116000

Variant Present in the following documents:

• Main text
• fneur-12-834971.pdf

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A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ganesan, Shiva S; Galer, Peter D PD; Helbig, Katherine L KL; McKeown, Sarah E SE; O'Brien, Margaret M; Gonzalez, Alexander K AK; Felmeister, Alex S AS; Khankhanian, Pouya P; Ellis, Colin A CA; Helbig, Ingo I

Publication Date: 2020-12

Variant appearance in text: KCNT1: 1429G>A; Ala477Thr

PubMed Link: 32773773

Variant Present in the following documents:

• 41436_2020_923_MOESM3_ESM.xls, sheet 1

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Treatment Responsiveness in KCNT1-Related Epilepsy.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Fitzgerald, Mark P MP; Fiannacca, Martina M; Smith, Douglas M DM; Gertler, Tracy S TS; Gunning, Boudewijn B; Syrbe, Steffen S; Verbeek, Nienke N; Stamberger, Hannah H; Weckhuysen, Sarah S; Ceulemans, Berten B; Schoonjans, An-Sofie AS; Rossi, Massimiliano M; Demarquay, Geneviève G; Lesca, Gaetan G; Olofsson, Kern K; Koolen, D A DA; Hornemann, Frauke F; Baulac, Stephanie S; Rubboli, Guido G; Minks, Kelly Q KQ; Lee, Bohoon B; Helbig, Ingo I; Dlugos, Dennis D; Møller, Rikke S RS; Bearden, David D

Publication Date: 2019-07

Variant appearance in text: KCNT1: 1429G>A; Ala477Thr

PubMed Link: 31054119

Variant Present in the following documents:

• Main text

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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: 1429G>A; Ala477Thr

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: A477T

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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