KCNT1 c.2800G>A ;(p.A934T)

Variant ID: 9-138671275-G-A

NM_020822.2(KCNT1):c.2800G>A;(p.A934T)

This variant was identified in 36 publications

View GRCh38 version.




Publications:


Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: KCNT1: 2800G>A; Ala934Thr
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: KCNT1: 2800G>A; A934T
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine
Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N
Publication Date: 2022-04-26

Variant appearance in text: KCNT1: 2800G>A; Ala934Thr
PubMed Link: 35468861
Variant Present in the following documents:
  • 13073_2022_1042_MOESM2_ESM.xls, sheet 4
View BVdb publication page



Efficacy of Ketogenic Diet for Infantile Spasms in Chinese Patients With or Without Monogenic Etiology.

Frontiers In Pediatrics
Wang, Jun J; Zhang, Jie J; Yang, Ying Y; Gao, Kai K; Wu, Ye Y; Zhang, Yuehua Y; Jiang, Yuwu Y
Publication Date: 2022

Variant appearance in text: KCNT1: 2800G>A; A934T
PubMed Link: 35372146
Variant Present in the following documents:
  • Main text
  • fped-10-842666.pdf
View BVdb publication page



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: 2800G>A
PubMed Link: 35116000
Variant Present in the following documents:
  • Main text
View BVdb publication page



There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.

Biomedicines
Morgan, Anna A; Faletra, Flavio F; Severi, Giulia G; La Bianca, Martina M; Licchetta, Laura L; Gasparini, Paolo P; Graziano, Claudio C; Girotto, Giorgia G
Publication Date: 2021-12-22

Variant appearance in text: KCNT1: 2800G>A; Ala934Thr
PubMed Link: 35052694
Variant Present in the following documents:
  • Main text
  • biomedicines-10-00012.pdf
View BVdb publication page



There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.

Biomedicines
Morgan, Anna A; Faletra, Flavio F; Severi, Giulia G; La Bianca, Martina M; Licchetta, Laura L; Gasparini, Paolo P; Graziano, Claudio C; Girotto, Giorgia G
Publication Date: 2021-12-22

Variant appearance in text: KCNT1: 2800G>A; Ala934Thr
PubMed Link: 35052694
Variant Present in the following documents:
  • Main text
  • biomedicines-10-00012.pdf
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: Ala934Thr
PubMed Link: 34911427
Variant Present in the following documents:
  • CN-20-916.pdf
View BVdb publication page



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: 2800G>A; Ala934Thr
PubMed Link: 34803415
Variant Present in the following documents:
  • Main text
  • nss-13-2065.pdf
View BVdb publication page



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: Ala934Thr
PubMed Link: 34122071
Variant Present in the following documents:
  • Main text
  • fphar-12-648519.pdf
View BVdb publication page



Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08

Variant appearance in text: KCNT1: 2800G>A; A934T; rs397515403
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM8_ESM.xlsx, sheet 1
  • 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.

Clinical Genetics
Marakhonov, Andrey V AV; Přechová, Magdalena M; Konovalov, Fedor A FA; Filatova, Alexandra Yu AY; Zamkova, Maria A MA; Kanivets, Ilya V IV; Solonichenko, Vladimir G VG; Semenova, Natalia A NA; Zinchenko, Rena A RA; Treisman, Richard R; Skoblov, Mikhail Yu MY
Publication Date: 2021-05

Variant appearance in text: KCNT1: 2800G>A; Ala934Thr
PubMed Link: 33463715
Variant Present in the following documents:
  • Main text
  • CGE-99-673.pdf
View BVdb publication page



Distinct mutation profiles between primary bladder cancer and circulating tumor cells warrant the use of circulating tumors cells as cellular resource for mutation follow-up.

Bmc Cancer
Kim, Tae-Min TM; Yoo, Jin-Seon JS; Moon, Hyong Woo HW; Hur, Kyung Jae KJ; Choi, Jin Bong JB; Hong, Sung-Hoo SH; Lee, Ji Youl JY; Ha, U-Syn US
Publication Date: 2020-12-07

Variant appearance in text: KCNT1: A934T
PubMed Link: 33287735
Variant Present in the following documents:
  • 12885_2020_7684_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Precision medicine and therapies of the future.

Epilepsia
Sisodiya, Sanjay M SM
Publication Date: 2021-03

Variant appearance in text: KCNT1: 2800G>A; A934T
PubMed Link: 32776321
Variant Present in the following documents:
  • Main text
  • EPI-62-S90.pdf
View BVdb publication page



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: Ala934Thr
PubMed Link: 32038177
Variant Present in the following documents:
  • Main text
  • fncel-14-00001.pdf
View BVdb publication page



Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.

Neurology. Genetics
Barcia, Giulia G; Chemaly, Nicole N; Kuchenbuch, Mathieu M; Eisermann, Monika M; Gobin-Limballe, Stéphanie S; Ciorna, Viorica V; Macaya, Alfons A; Lambert, Laetitia L; Dubois, Fanny F; Doummar, Diane D; Billette de Villemeur, Thierry T; Villeneuve, Nathalie N; Barthez, Marie-Anne MA; Nava, Caroline C; Boddaert, Nathalie N; Kaminska, Anna A; Bahi-Buisson, Nadia N; Milh, Mathieu M; Auvin, Stéphane S; Bonnefont, Jean-Paul JP; Nabbout, Rima R
Publication Date: 2019-12

Variant appearance in text: KCNT1: A934T
PubMed Link: 31872048
Variant Present in the following documents:
  • Main text
  • NG2018009845.pdf
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: 2800G>A; Ala934Thr
PubMed Link: 31440721
Variant Present in the following documents:
  • EPI4-4-397-s003.xlsx, sheet 1
View BVdb publication page



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: Ala934Thr
PubMed Link: 31359944
Variant Present in the following documents:
  • AIAN-22-311.pdf
View BVdb publication page



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: 2800G>A; Ala934Thr
PubMed Link: 31054119
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2800G>A; Ala934Thr
PubMed Link: 30847371
Variant Present in the following documents:
  • Main text
  • ACN3-6-386.pdf
View BVdb publication page



Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.

Bmc Medical Genomics
Rim, John Hoon JH; Kim, Se Hee SH; Hwang, In Sik IS; Kwon, Soon Sung SS; Kim, Jieun J; Kim, Hyun Woo HW; Cho, Min Jung MJ; Ko, Ara A; Youn, Song Ee SE; Kim, Jihun J; Lee, Young Mock YM; Chung, Hee Jung HJ; Lee, Joon Soo JS; Kim, Heung Dong HD; Choi, Jong Rak JR; Lee, Seung-Tae ST; Kang, Hoon-Chul HC
Publication Date: 2018-02-01

Variant appearance in text: KCNT1: 2800G>A; Ala934Thr
PubMed Link: 29390993
Variant Present in the following documents:
  • Main text
  • 12920_2018_Article_320.pdf
View BVdb publication page



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: A934T
PubMed Link: 29196579
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2016778852.pdf
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: 2800G>A; Ala934Thr
PubMed Link: 28864458
Variant Present in the following documents:
  • supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
View BVdb publication page



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: 2800G>A; Ala934Thr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: A934T
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Genome Medicine
Erson-Omay, E Zeynep EZ; Henegariu, Octavian O; Omay, S Bülent SB; Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Mishra-Gorur, Ketu K; Li, Jie J; Özduman, Koray K; Carrión-Grant, Geneive G; Clark, Victoria E VE; Çağlar, Caner C; Bakırcıoğlu, Mehmet M; Pamir, M Necmettin MN; Tabar, Viviane V; Vortmeyer, Alexander O AO; Bilguvar, Kaya K; Yasuno, Katsuhito K; DeAngelis, Lisa M LM; Baehring, Joachim M JM; Moliterno, Jennifer J; Günel, Murat M
Publication Date: 2017-02-02

Variant appearance in text: KCNT1: A934T
PubMed Link: 28153049
Variant Present in the following documents:
  • 13073_2017_401_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: KCNT1: 2800G>A; A934T
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
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: Ala934Thr
PubMed Link: 27064559
Variant Present in the following documents:
  • Main text
View BVdb publication page



Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

Journal Of Medical Genetics
Trump, Natalie N; McTague, Amy A; Brittain, Helen H; Papandreou, Apostolos A; Meyer, Esther E; Ngoh, Adeline A; Palmer, Rodger R; Morrogh, Deborah D; Boustred, Christopher C; Hurst, Jane A JA; Jenkins, Lucy L; Kurian, Manju A MA; Scott, Richard H RH
Publication Date: 2016-05

Variant appearance in text: KCNT1: 2800G>A; Ala934Thr
PubMed Link: 26993267
Variant Present in the following documents:
  • Main text
  • jmedgenet-2015-103263supp_tables.pdf
  • jmedgenet-2015-103263.pdf
View BVdb publication page



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: 2800G>A; Ala934Thr
PubMed Link: 26122718
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2800G>A; A934T
PubMed Link: 25568878
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2800G>A; A934T
PubMed Link: 25482562
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2800G>A
PubMed Link: 24591078
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: A934T
PubMed Link: 24463883
Variant Present in the following documents:
  • Main text
View BVdb publication page



Slack, Slick and Sodium-Activated Potassium Channels.

Isrn Neuroscience
Kaczmarek, Leonard K LK
Publication Date: 2013-04-18

Variant appearance in text: Slo2.2: A934T
PubMed Link: 24319675
Variant Present in the following documents:
  • Main text
  • ISRN.NEUROSCIENCE2013-354262.pdf
View BVdb publication page



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: A934T
PubMed Link: 23599387
Variant Present in the following documents:
  • Main text
View BVdb publication page



De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

Nature Genetics
Barcia, Giulia G; Fleming, Matthew R MR; Deligniere, Aline A; Gazula, Valeswara-Rao VR; Brown, Maile R MR; Langouet, Maeva M; Chen, Haijun H; Kronengold, Jack J; Abhyankar, Avinash A; Cilio, Roberta R; Nitschke, Patrick P; Kaminska, Anna A; Boddaert, Nathalie N; Casanova, Jean-Laurent JL; Desguerre, Isabelle I; Munnich, Arnold A; Dulac, Olivier O; Kaczmarek, Leonard K LK; Colleaux, Laurence L; Nabbout, Rima R
Publication Date: 2012-11

Variant appearance in text: KCNT1: 2800G>A
PubMed Link: 23086397
Variant Present in the following documents:
  • Main text
View BVdb publication page