Publications:

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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: Val271Phe

PubMed Link: 34911427

Variant Present in the following documents:

• CN-20-916.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: Val271Phe

PubMed Link: 32038177

Variant Present in the following documents:

• Main text
• fncel-14-00001.pdf

View BVdb publication page

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Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.

Neurology

McTague, Amy A; Nair, Umesh U; Malhotra, Sony S; Meyer, Esther E; Trump, Natalie N; Gazina, Elena V EV; Papandreou, Apostolos A; Ngoh, Adeline A; Ackermann, Sally S; Ambegaonkar, Gautam G; Appleton, Richard R; Desurkar, Archana A; Eltze, Christin C; Kneen, Rachel R; Kumar, Ajith V AV; Lascelles, Karine K; Montgomery, Tara T; Ramesh, Venkateswaran V; Samanta, Rajib R; Scott, Richard H RH; Tan, Jeen J; Whitehouse, William W; Poduri, Annapurna A; Scheffer, Ingrid E IE; Chong, W K Kling WKK; Cross, J Helen JH; Topf, Maya M; Petrou, Steven S; Kurian, Manju A MA

Publication Date: 2018-01-02

Variant appearance in text: KCNT1: V271F

PubMed Link: 29196579

Variant Present in the following documents:

• Main text
• NEUROLOGY2016778852.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: 811G>T; Val271Phe

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: V271F

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: Val271Phe

PubMed Link: 27064559

Variant Present in the following documents:

• Main text
• fncel-10-00081.pdf

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KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.

Annals Of Neurology

Milligan, Carol J CJ; Li, Melody M; Gazina, Elena V EV; Heron, Sarah E SE; Nair, Umesh U; Trager, Chantel C; Reid, Christopher A CA; Venkat, Anu A; Younkin, Donald P DP; Dlugos, Dennis J DJ; Petrovski, Slavé S; Goldstein, David B DB; Dibbens, Leanne M LM; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Petrou, Steven S

Publication Date: 2014-04

Variant appearance in text: KCNT1: V271F

PubMed Link: 24591078

Variant Present in the following documents:

• Main text

View BVdb publication page

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Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.

Brain : A Journal Of Neurology

McTague, Amy A; Appleton, Richard R; Avula, Shivaram S; Cross, J Helen JH; King, Mary D MD; Jacques, Thomas S TS; Bhate, Sanjay S; Cronin, Anthony A; Curran, Andrew A; Desurkar, Archana A; Farrell, Michael A MA; Hughes, Elaine E; Jefferson, Rosalind R; Lascelles, Karine K; Livingston, John J; Meyer, Esther E; McLellan, Ailsa A; Poduri, Annapurna A; Scheffer, Ingrid E IE; Spinty, Stefan S; Kurian, Manju A MA; Kneen, Rachel R

Publication Date: 2013-05

Variant appearance in text: KCNT1: V271F

PubMed Link: 23599387

Variant Present in the following documents:

• Main text

View BVdb publication page

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