KCNT1 c.2896G>A ;(p.A966T)

Variant ID: 9-138675924-G-A

NM_020822.2(KCNT1):c.2896G>A;(p.A966T)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


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: A966T
PubMed Link: 36499459
Variant Present in the following documents:
  • Main text
  • ijms-23-15133.pdf
View BVdb publication page



GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood
Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD
Publication Date: 2022-10-06

Variant appearance in text: KCNT1: A966T
PubMed Link: 36201743
Variant Present in the following documents:
  • BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6
View BVdb publication page



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: Ala966Thr
PubMed Link: 34911427
Variant Present in the following documents:
  • CN-20-916.pdf
View BVdb publication page



Impaired motor skill learning and altered seizure susceptibility in mice with loss or gain of function of the Kcnt1 gene encoding Slack (KNa1.1) Na+-activated K+ channels.

Scientific Reports
Quraishi, Imran H IH; Mercier, Michael R MR; McClure, Heather H; Couture, Rachael L RL; Schwartz, Michael L ML; Lukowski, Robert R; Ruth, Peter P; Kaczmarek, Leonard K LK
Publication Date: 2020-02-21

Variant appearance in text: KCNT1: A966T
PubMed Link: 32081855
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2896G>A; Ala966Thr
PubMed Link: 31440721
Variant Present in the following documents:
  • EPI4-4-397-s003.xlsx, sheet 1
View BVdb publication page



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: 2896G>A; Ala966Thr
PubMed Link: 28864458
Variant Present in the following documents:
  • supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
View BVdb publication page



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: A966T
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Ala966Thr
PubMed Link: 27064559
Variant Present in the following documents:
  • Main text
  • fncel-10-00081.pdf
View BVdb publication page



Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Nature Genetics
Taylor, Jenny C JC; Martin, Hilary C HC; Lise, Stefano S; Broxholme, John J; Cazier, Jean-Baptiste JB; Rimmer, Andy A; Kanapin, Alexander A; Lunter, Gerton G; Fiddy, Simon S; Allan, Chris C; Aricescu, A Radu AR; Attar, Moustafa M; Babbs, Christian C; Becq, Jennifer J; Beeson, David D; Bento, Celeste C; Bignell, Patricia P; Blair, Edward E; Buckle, Veronica J VJ; Bull, Katherine K; Cais, Ondrej O; Cario, Holger H; Chapel, Helen H; Copley, Richard R RR; Cornall, Richard R; Craft, Jude J; Dahan, Karin K; Davenport, Emma E EE; Dendrou, Calliope C; Devuyst, Olivier O; Fenwick, Aimée L AL; Flint, Jonathan J; Fugger, Lars L; Gilbert, Rodney D RD; Goriely, Anne A; Green, Angie A; Greger, Ingo H IH; Grocock, Russell R; Gruszczyk, Anja V AV; Hastings, Robert R; Hatton, Edouard E; Higgs, Doug D; Hill, Adrian A; Holmes, Chris C; Howard, Malcolm M; Hughes, Linda L; Humburg, Peter P; Johnson, David D; Karpe, Fredrik F; Kingsbury, Zoya Z; Kini, Usha U; Knight, Julian C JC; Krohn, Jonathan J; Lamble, Sarah S; Langman, Craig C; Lonie, Lorne L; Luck, Joshua J; McCarthy, Davis D; McGowan, Simon J SJ; McMullin, Mary Frances MF; Miller, Kerry A KA; Murray, Lisa L; Németh, Andrea H AH; Nesbit, M Andrew MA; Nutt, David D; Ormondroyd, Elizabeth E; Oturai, Annette Bang AB; Pagnamenta, Alistair A; Patel, Smita Y SY; Percy, Melanie M; Petousi, Nayia N; Piazza, Paolo P; Piret, Sian E SE; Polanco-Echeverry, Guadalupe G; Popitsch, Niko N; Powrie, Fiona F; Pugh, Chris C; Quek, Lynn L; Robbins, Peter A PA; Robson, Kathryn K; Russo, Alexandra A; Sahgal, Natasha N; van Schouwenburg, Pauline A PA; Schuh, Anna A; Silverman, Earl E; Simmons, Alison A; Sørensen, Per Soelberg PS; Sweeney, Elizabeth E; Taylor, John J; Thakker, Rajesh V RV; Tomlinson, Ian I; Trebes, Amy A; Twigg, Stephen Rf SR; Uhlig, Holm H HH; Vyas, Paresh P; Vyse, Tim T; Wall, Steven A SA; Watkins, Hugh H; Whyte, Michael P MP; Witty, Lorna L; Wright, Ben B; Yau, Chris C; Buck, David D; Humphray, Sean S; Ratcliffe, Peter J PJ; Bell, John I JI; Wilkie, Andrew Om AO; Bentley, David D; Donnelly, Peter P; McVean, Gilean G
Publication Date: 2015-07

Variant appearance in text: KCNT1: 2896G>A; A966T
PubMed Link: 25985138
Variant Present in the following documents:
  • Main text
  • emss-63135.pdf
  • NIHMS63135-supplement-1.pdf
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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: 2896G>A; A966T
PubMed Link: 25482562
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

Human Molecular Genetics
Martin, Hilary C HC; Kim, Grace E GE; Pagnamenta, Alistair T AT; Murakami, Yoshiko Y; Carvill, Gemma L GL; Meyer, Esther E; Copley, Richard R RR; Rimmer, Andrew A; Barcia, Giulia G; Fleming, Matthew R MR; Kronengold, Jack J; Brown, Maile R MR; Hudspith, Karl A KA; Broxholme, John J; Kanapin, Alexander A; Cazier, Jean-Baptiste JB; Kinoshita, Taroh T; Nabbout, Rima R; , ; Bentley, David D; McVean, Gil G; Heavin, Sinéad S; Zaiwalla, Zenobia Z; McShane, Tony T; Mefford, Heather C HC; Shears, Deborah D; Stewart, Helen H; Kurian, Manju A MA; Scheffer, Ingrid E IE; Blair, Edward E; Donnelly, Peter P; Kaczmarek, Leonard K LK; Taylor, Jenny C JC
Publication Date: 2014-06-15

Variant appearance in text: KCNT1: A966T
PubMed Link: 24463883
Variant Present in the following documents:
  • Main text
  • ddu030.pdf
View BVdb publication page