Publications:

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Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity.

International Journal Of Molecular Sciences

Rychkov, Grigori Y GY; Shaukat, Zeeshan Z; Lim, Chiao Xin CX; Hussain, Rashid R; Roberts, Ben J BJ; Bonardi, Claudia M CM; Rubboli, Guido G; Meaney, Brandon F BF; Whitney, Robyn R; Møller, Rikke S RS; Ricos, Michael G MG; Dibbens, Leanne M LM

Publication Date: 2022-12-01

Variant appearance in text: KCNT1: Y796H

PubMed Link: 36499459

Variant Present in the following documents:

• Main text
• ijms-23-15133.pdf

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Antisense oligonucleotide therapy for KCNT1 encephalopathy.

Jci Insight

Burbano, Lisseth Estefania LE; Li, Melody M; Jancovski, Nikola N; Jafar-Nejad, Paymaan P; Richards, Kay K; Sedo, Alicia A; Soriano, Armand A; Rollo, Ben B; Jia, Linghan L; Gazina, Elena V EV; Piltz, Sandra S; Adikusuma, Fatwa F; Thomas, Paul Q PQ; Kopsidas, Helen H; Rigo, Frank F; Reid, Christopher A CA; Maljevic, Snezana S; Petrou, Steven S

Publication Date: 2022-12-08

Variant appearance in text: KCNT1: Y796H

PubMed Link: 36173683

Variant Present in the following documents:

• Main text
• jciinsight-7-146090.pdf

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KNa1.1 gain-of-function preferentially dampens excitability of murine parvalbumin-positive interneurons.

Neurobiology Of Disease

Gertler, Tracy S TS; Cherian, Suraj S; DeKeyser, Jean-Marc JM; Kearney, Jennifer A JA; George, Alfred L AL

Publication Date: 2022-06-15

Variant appearance in text: KCNT1: Y796H

PubMed Link: 35346832

Variant Present in the following documents:

• Main text
• nihms-1809779.pdf

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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: 2386T>C

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: Y796H

PubMed Link: 34911427

Variant Present in the following documents:

• Main text
• CN-20-916.pdf

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Sleep-Related Hypermotor Epilepsy: Etiology, Electro-Clinical Features, and Therapeutic Strategies.

Nature And Science Of Sleep

Wan, Huijuan H; Wang, Xing X; Chen, Yiyi Y; Jiang, Bin B; Chen, Yangmei Y; Hu, Wenhan W; Zhang, Kai K; Shao, Xiaoqiu X

Publication Date: 2021

Variant appearance in text: KCNT1: 2386T>C; Tyr796His

PubMed Link: 34803415

Variant Present in the following documents:

• Main text
• nss-13-2065.pdf

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A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy.

Translational Neuroscience

Xie, Na N; Qin, Weiwei W; Deng, Jianzhong J; Qi, Jinxing J; Niu, Dewang D; Lu, Guifeng G; Wang, Qun Q

Publication Date: 2021-01-01

Variant appearance in text: KCNT1: 2386T>C; Tyr796His

PubMed Link: 34567798

Variant Present in the following documents:

• Main text
• tnsci-2020-0182.pdf

View BVdb publication page

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Same Channel, Different Tune.

Epilepsy Currents

Maguire, Jamie L JL

Publication Date: 2021

Variant appearance in text: KCNT1: Y796H

PubMed Link: 34025287

Variant Present in the following documents:

• Main text
• 10.1177_1535759720986837.pdf

View BVdb publication page

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Overlaps, gaps, and complexities of mouse models of Developmental and Epileptic Encephalopathy.

Neurobiology Of Disease

Wang, Wanqi W; Frankel, Wayne N WN

Publication Date: 2021-01

Variant appearance in text: KCNT1: Y796H

PubMed Link: 33301879

Variant Present in the following documents:

• Main text
• nihms-1652681.pdf

View BVdb publication page

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Reduced GABAergic Neuron Excitability, Altered Synaptic Connectivity, and Seizures in a KCNT1 Gain-of-Function Mouse Model of Childhood Epilepsy.

Cell Reports

Shore, Amy N AN; Colombo, Sophie S; Tobin, William F WF; Petri, Sabrina S; Cullen, Erin R ER; Dominguez, Soledad S; Bostick, Christopher D CD; Beaumont, Michael A MA; Williams, Damian D; Khodagholy, Dion D; Yang, Mu M; Lutz, Cathleen M CM; Peng, Yueqing Y; Gelinas, Jennifer N JN; Goldstein, David B DB; Boland, Michael J MJ; Frankel, Wayne N WN; Weston, Matthew C MC

Publication Date: 2020-10-27

Variant appearance in text: KCNT1: 2386T>C; Tyr796His

PubMed Link: 33113364

Variant Present in the following documents:

• Main text
• nihms-1642113.pdf
• NIHMS1642113-supplement-3.pdf

View BVdb publication page

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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: 2386T>C; Tyr796His

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: 2386T>C; Y796H

PubMed Link: 32776321

Variant Present in the following documents:

• Main text
• EPI-62-S90.pdf

View BVdb publication page

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Structure-Based Identification and Characterization of Inhibitors of the Epilepsy-Associated KNa1.1 (KCNT1) Potassium Channel.

Iscience

Cole, Bethan A BA; Johnson, Rachel M RM; Dejakaisaya, Hattapark H; Pilati, Nadia N; Fishwick, Colin W G CWG; Muench, Stephen P SP; Lippiat, Jonathan D JD

Publication Date: 2020-05-22

Variant appearance in text: KCNT1: Y796H

PubMed Link: 32408169

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

View BVdb publication page

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: KCNT1: 2386T>C; Tyr796His

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

View BVdb publication page

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Two South Indian Children with KCNT1-Related Malignant Migrating Focal Seizures of Infancy - Clinical Characteristics and Outcome of Targeted Treatment with Quinidine.

Annals Of Indian Academy Of Neurology

Patil, Abhijit Anil AA; Vinayan, K P KP; Roy, Arun Grace AG

Publication Date: 2019

Variant appearance in text: KCNT1: 2386T>C; Y796H

PubMed Link: 31359944

Variant Present in the following documents:

• AIAN-22-311.pdf

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Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations.

Annals Of Clinical And Translational Neurology

Rubboli, Guido G; Plazzi, Giuseppe G; Picard, Fabienne F; Nobili, Lino L; Hirsch, Edouard E; Chelly, Jamel J; Prayson, Richard A RA; Boutonnat, Jean J; Bramerio, Manuela M; Kahane, Philippe P; Dibbens, Leanne M LM; Gardella, Elena E; Baulac, Stéphanie S; Møller, Rikke S RS

Publication Date: 2019-02

Variant appearance in text: KCNT1: 2386T>C; Tyr796His

PubMed Link: 30847371

Variant Present in the following documents:

• Main text

View BVdb publication page

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Quinidine Therapy for Lennox-Gastaut Syndrome With KCNT1 Mutation. A Case Report and Literature Review.

Frontiers In Neurology

Jia, Yu Y; Lin, Yicong Y; Li, Jing J; Li, Mingyu M; Zhang, Yifan Y; Hou, Yue Y; Liu, Aihua A; Zhang, Liping L; Li, Liping L; Xiang, Peng P; Ye, Jing J; Huang, Zhaoyang Z; Wang, Yuping Y

Publication Date: 2019

Variant appearance in text: KCNT1: 2386T>C; Y796H

PubMed Link: 30804880

Variant Present in the following documents:

• Main text
• fneur-10-00064.pdf

View BVdb publication page

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Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Dilena, Robertino R; DiFrancesco, Jacopo C JC; Soldovieri, Maria Virginia MV; Giacobbe, Antonella A; Ambrosino, Paolo P; Mosca, Ilaria I; Galli, Maria Albina MA; Guez, Sophie S; Fumagalli, Monica M; Miceli, Francesco F; Cattaneo, Dario D; Darra, Francesca F; Gennaro, Elena E; Zara, Federico F; Striano, Pasquale P; Castellotti, Barbara B; Gellera, Cinzia C; Varesio, Costanza C; Veggiotti, Pierangelo P; Taglialatela, Maurizio M

Publication Date: 2018-10

Variant appearance in text: KCNT1: 2386T>C

PubMed Link: 30112700

Variant Present in the following documents:

• Main text

View BVdb publication page

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A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.

Plos Genetics

Zhu, Xiaolin X; Padmanabhan, Raghavendra R; Copeland, Brett B; Bridgers, Joshua J; Ren, Zhong Z; Kamalakaran, Sitharthan S; O'Driscoll-Collins, Ailbhe A; Berkovic, Samuel F SF; Scheffer, Ingrid E IE; Poduri, Annapurna A; Mei, Davide D; Guerrini, Renzo R; Lowenstein, Daniel H DH; Allen, Andrew S AS; Heinzen, Erin L EL; Goldstein, David B DB

Publication Date: 2017-11

Variant appearance in text: KCNT1: 2386T>C; Tyr796His

PubMed Link: 29186148

Variant Present in the following documents:

• pgen.1007104.s002.xlsx, sheet 1

View BVdb publication page

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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: 2386T>C; Tyr796His

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

View BVdb publication page

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Genetic and epigenetic mechanisms of epilepsy: a review.

Neuropsychiatric Disease And Treatment

Chen, Tian T; Giri, Mohan M; Xia, Zhenyi Z; Subedi, Yadu Nanda YN; Li, Yan Y

Publication Date: 2017

Variant appearance in text: KCNT1: Y796H

PubMed Link: 28761347

Variant Present in the following documents:

• Main text
• ndt-13-1841.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KCNT1: 2386T>C; Tyr796His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: Y796H

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: KCNT1: 2386T>C

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

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: Tyr796His

PubMed Link: 27064559

Variant Present in the following documents:

• Main text
• fncel-10-00081.pdf

View BVdb publication page

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Quinidine in the treatment of KCNT1-positive epilepsies.

Annals Of Neurology

Mikati, Mohamad A MA; Jiang, Yong-Hui YH; Carboni, Michael M; Shashi, Vandana V; Petrovski, Slave S; Spillmann, Rebecca R; Milligan, Carol J CJ; Li, Melody M; Grefe, Annette A; McConkie, Allyn A; Berkovic, Samuel S; Scheffer, Ingrid I; Mullen, Saul S; Bonner, Melanie M; Petrou, Steven S; Goldstein, David D

Publication Date: 2015-12

Variant appearance in text: KCNT1: 2386T>C; Y796H

PubMed Link: 26369628

Variant Present in the following documents:

• Main text

View BVdb publication page

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Application of next-generation sequencing technologies in Neurology.

Annals Of Translational Medicine

Jiang, Teng T; Tan, Meng-Shan MS; Tan, Lan L; Yu, Jin-Tai JT

Publication Date: 2014-12

Variant appearance in text: KCNT1: 2386T>C; Y796H

PubMed Link: 25568878

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human slack potassium channel mutations increase positive cooperativity between individual channels.

Cell Reports

Kim, Grace E GE; Kronengold, Jack J; Barcia, Giulia G; Quraishi, Imran H IH; Martin, Hilary C HC; Blair, Edward E; Taylor, Jenny C JC; Dulac, Olivier O; Colleaux, Laurence L; Nabbout, Rima R; Kaczmarek, Leonard K LK

Publication Date: 2014-12-11

Variant appearance in text: KCNT1: 2386T>C; Y796H

PubMed Link: 25482562

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 2386T>C

PubMed Link: 24591078

Variant Present in the following documents:

• Main text

View BVdb publication page

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