Publications:

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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: KCNT1: R928C

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

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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: R928C

PubMed Link: 36499459

Variant Present in the following documents:

• Main text
• ijms-23-15133.pdf

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs397515405

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs397515405

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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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: R928C

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: 2782C>T; Arg928Cys

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: 2782C>T; Arg928Cys

PubMed Link: 34567798

Variant Present in the following documents:

• Main text
• tnsci-2020-0182.pdf

View BVdb publication page

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Case Report of Novel Genetic Variant in KCNT1 Channel and Pharmacological Treatment With Quinidine. Precision Medicine in Refractory Epilepsy.

Frontiers In Pharmacology

Kravetz, M C MC; Viola, M S MS; Prenz, J J; Curi, M M; Bramuglia, G F GF; Tenembaum, S S

Publication Date: 2021

Variant appearance in text: KCNT1: Arg928Cys

PubMed Link: 34122071

Variant Present in the following documents:

• Main text
• fphar-12-648519.pdf

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: 2782C>T; R928C

PubMed Link: 32776321

Variant Present in the following documents:

• Main text
• EPI-62-S90.pdf

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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: 2782C>T; R928C

PubMed Link: 30804880

Variant Present in the following documents:

• Main text
• fneur-10-00064.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: KCNT1: R928C

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: 2782C>T

PubMed Link: 30112700

Variant Present in the following documents:

• Main text

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: 2782C>T; Arg928Cys

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: R928C

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: 2782C>T; Arg928Cys

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: R928C

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

Molecular Syndromology

Møller, Rikke S RS; Larsen, Line H G LH; Johannesen, Katrine M KM; Talvik, Inga I; Talvik, Tiina T; Vaher, Ulvi U; Miranda, Maria J MJ; Farooq, Muhammad M; Nielsen, Jens E K JE; Svendsen, Lene Lavard LL; Kjelgaard, Ditte B DB; Linnet, Karen M KM; Hao, Qin Q; Uldall, Peter P; Frangu, Mimoza M; Tommerup, Niels N; Baig, Shahid M SM; Abdullah, Uzma U; Born, Alfred P AP; Gellert, Pia P; Nikanorova, Marina M; Olofsson, Kern K; Jepsen, Birgit B; Marjanovic, Dragan D; Al-Zehhawi, Lana I K LI; Peñalva, Sofia J SJ; Krag-Olsen, Bente B; Brusgaard, Klaus K; Hjalgrim, Helle H; Rubboli, Guido G; Pal, Deb K DK; Dahl, Hans A HA

Publication Date: 2016-09

Variant appearance in text: KCNT1: 2782C>T; Arg928Cys

PubMed Link: 27781031

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: Arg928Cys

PubMed Link: 27064559

Variant Present in the following documents:

• Main text
• fncel-10-00081.pdf

View BVdb publication page

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Mutations in KCNT1 cause a spectrum of focal epilepsies.

Epilepsia

Møller, Rikke S RS; Heron, Sarah E SE; Larsen, Line H G LH; Lim, Chiao Xin CX; Ricos, Michael G MG; Bayly, Marta A MA; van Kempen, Marjan J A MJ; Klinkenberg, Sylvia S; Andrews, Ian I; Kelley, Kent K; Ronen, Gabriel M GM; Callen, David D; McMahon, Jacinta M JM; Yendle, Simone C SC; Carvill, Gemma L GL; Mefford, Heather C HC; Nabbout, Rima R; Poduri, Annapurna A; Striano, Pasquale P; Baglietto, Maria G MG; Zara, Federico F; Smith, Nicholas J NJ; Pridmore, Clair C; Gardella, Elena E; Nikanorova, Marina M; Dahl, Hans Atli HA; Gellert, Pia P; Scheffer, Ingrid E IE; Gunning, Boudewijn B; Kragh-Olsen, Bente B; Dibbens, Leanne M LM

Publication Date: 2015-09

Variant appearance in text: KCNT1: 2782C>T; Arg928Cys

PubMed Link: 26122718

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy.

Frontiers In Physiology

Becchetti, Andrea A; Aracri, Patrizia P; Meneghini, Simone S; Brusco, Simone S; Amadeo, Alida A

Publication Date: 2015

Variant appearance in text: KCNT1: R928C

PubMed Link: 25717303

Variant Present in the following documents:

• Main text
• fphys-06-00022.pdf

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: 2782C>T; R928C

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: 2782C>T; R928C

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: 2782C>T

PubMed Link: 24591078

Variant Present in the following documents:

• Main text

View BVdb publication page

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