Publications:

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: SCN1A: T875M; rs121918623

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1
• Table_7.xlsx, sheet 1

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Mechanism of the promotion of GEFS+ by the STAT3-mediated expression of interleukin-6.

Translational Pediatrics

Ling, Yinjie Y; Wang, Yun Y; Jiang, Xiaofeng X; Yuan, Chen C

Publication Date: 2022-09

Variant appearance in text: SCN1A: T875M

PubMed Link: 36247897

Variant Present in the following documents:

• Main text
• tp-11-09-1491.pdf

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Concise Review: Stem Cell Models of SCN1A-Related Encephalopathies-Current Perspective and Future Therapies.

Cells

Zayat, Valery V; Szlendak, Roza R; Hoffman-Zacharska, Dorota D

Publication Date: 2022-10-04

Variant appearance in text: Nav1.1: Thr875Met

PubMed Link: 36231081

Variant Present in the following documents:

• Main text

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Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)

Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G

Publication Date: 2022-09-01

Variant appearance in text: Nav1.1: T875M

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.pdf

View BVdb publication page

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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: rs121918623

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: rs121918623

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN1A: T875M

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

View BVdb publication page

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SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Frontiers In Neurology

Ding, Jiangwei J; Li, Xinxiao X; Tian, Haiyan H; Wang, Lei L; Guo, Baorui B; Wang, Yangyang Y; Li, Wenchao W; Wang, Feng F; Sun, Tao T

Publication Date: 2021

Variant appearance in text: SCN1A: Thr875Met

PubMed Link: 35002916

Variant Present in the following documents:

• Main text
• fneur-12-743726.pdf

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Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: SCN1A: 2624C>T; Thr875Met

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

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Neddylation stabilizes Nav1.1 to maintain interneuron excitability and prevent seizures in murine epilepsy models.

The Journal Of Clinical Investigation

Chen, Wenbing W; Luo, Bin B; Gao, Nannan N; Li, Haiwen H; Wang, Hongsheng H; Li, Lei L; Cui, Wanpeng W; Zhang, Lei L; Sun, Dong D; Liu, Fang F; Dong, Zhaoqi Z; Ren, Xiao X; Zhang, Hongsheng H; Su, Huabo H; Xiong, Wen-Cheng WC; Mei, Lin L

Publication Date: 2021-04-15

Variant appearance in text: SMEI: T875M

PubMed Link: 33651714

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Role of the Persistent Sodium Current in Epilepsy.

Epilepsy Currents

Wengert, Eric R ER; Patel, Manoj K MK

Publication Date: 2021

Variant appearance in text: SMEI: T875M

PubMed Link: 33236643

Variant Present in the following documents:

• Main text
• 10.1177_1535759720973978.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: SCN1A: T875M

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: SCN1A: T875M

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: SCN1A: T875M

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 3

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: SCN1A: 2624C>T; Thr875Met

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

View BVdb publication page

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: SCN1A: T875M; rs121918623

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 2

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: SCN1A: 2624C>T; Thr875Met

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: SCN1A: T875M

PubMed Link: 28761347

Variant Present in the following documents:

• Main text
• ndt-13-1841.pdf

View BVdb publication page

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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurology. Genetics

Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF

Publication Date: 2017-08

Variant appearance in text: SCN1A: 2624C>T; T875M

PubMed Link: 28717674

Variant Present in the following documents:

• supp_3.4.e163_Table_e-1.xlsx, sheet 1

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: SCN1A: T875M

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: Nav1.1: T875M

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page

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Generation of Febrile Seizures and Subsequent Epileptogenesis.

Neuroscience Bulletin

Feng, Bo B; Chen, Zhong Z

Publication Date: 2016-10

Variant appearance in text: SCN1A: T875M

PubMed Link: 27562688

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: SCN1A: 2624C>T; T875M

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: SCN1A: T875M

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s2.xlsx, sheet 14

View BVdb publication page

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Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes.

Human Genomics

Domitrz, Izabela I; Kosiorek, Michalina M; Żekanowski, Cezary C; Kamińska, Anna A

Publication Date: 2016-01-08

Variant appearance in text: SCN1A: T875M

PubMed Link: 26747084

Variant Present in the following documents:

• Main text
• 40246_2015_Article_57.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SMEI: T875M; rs121918623

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: SCN1A: 2624C>T

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN1A: T875M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: SCN1A: 2624C>T

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Nature Communications

Liu, Jinfeng J; McCleland, Mark M; Stawiski, Eric W EW; Gnad, Florian F; Mayba, Oleg O; Haverty, Peter M PM; Durinck, Steffen S; Chen, Ying-Jiun YJ; Klijn, Christiaan C; Jhunjhunwala, Suchit S; Lawrence, Michael M; Liu, Hanbin H; Wan, Yinan Y; Chopra, Vivek V; Yaylaoglu, Murat B MB; Yuan, Wenlin W; Ha, Connie C; Gilbert, Houston N HN; Reeder, Jens J; Pau, Gregoire G; Stinson, Jeremy J; Stern, Howard M HM; Manning, Gerard G; Wu, Thomas D TD; Neve, Richard M RM; de Sauvage, Frederic J FJ; Modrusan, Zora Z; Seshagiri, Somasekar S; Firestein, Ron R; Zhang, Zemin Z

Publication Date: 2014-05-08

Variant appearance in text: rs121918623

PubMed Link: 24807215

Variant Present in the following documents:

• ncomms4830-s5.xls, sheet 1

View BVdb publication page

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Voltage-gated sodium channels: pharmaceutical targets via anticonvulsants to treat epileptic syndromes.

Channels (Austin, Tex.)

Abdelsayed, Mena M; Sokolov, Stanislav S

Publication Date: 2013

Variant appearance in text: SCN1A: T875M

PubMed Link: 23531742

Variant Present in the following documents:

• Main text

View BVdb publication page

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Neurological perspectives on voltage-gated sodium channels.

Brain : A Journal Of Neurology

Eijkelkamp, Niels N; Linley, John E JE; Baker, Mark D MD; Minett, Michael S MS; Cregg, Roman R; Werdehausen, Robert R; Rugiero, François F; Wood, John N JN

Publication Date: 2012-09

Variant appearance in text: SCN1A: T875M

PubMed Link: 22961543

Variant Present in the following documents:

• Main text
• aws225.pdf

View BVdb publication page

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Sodium channel SCN1A and epilepsy: mutations and mechanisms.

Epilepsia

Escayg, Andrew A; Goldin, Alan L AL

Publication Date: 2010-09

Variant appearance in text: SCN1A: T875M

PubMed Link: 20831750

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ranolazine selectively blocks persistent current evoked by epilepsy-associated Naν1.1 mutations.

British Journal Of Pharmacology

Kahlig, Kristopher M KM; Lepist, Irene I; Leung, Kwan K; Rajamani, Sridharan S; George, Alfred L AL

Publication Date: 2010-11

Variant appearance in text: SMEI: T875M

PubMed Link: 20735403

Variant Present in the following documents:

• Main text

View BVdb publication page

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NaV1.1 channels and epilepsy.

The Journal Of Physiology

Catterall, William A WA; Kalume, Franck F; Oakley, John C JC

Publication Date: 2010-06-01

Variant appearance in text: SMEI: T875M

PubMed Link: 20194124

Variant Present in the following documents:

• Main text

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Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities.

The Journal Of Biological Chemistry

Martin, Melinda S MS; Dutt, Karoni K; Papale, Ligia A LA; Dubé, Céline M CM; Dutton, Stacey B SB; de Haan, Georgius G; Shankar, Anupama A; Tufik, Sergio S; Meisler, Miriam H MH; Baram, Tallie Z TZ; Goldin, Alan L AL; Escayg, Andrew A

Publication Date: 2010-03-26

Variant appearance in text: SCN1A: T875M

PubMed Link: 20100831

Variant Present in the following documents:

• Main text

View BVdb publication page

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Persistent sodium current and its role in epilepsy.

Epilepsy Currents

Stafstrom, Carl E CE

Publication Date: 2007

Variant appearance in text: SCN1A: T875M

PubMed Link: 17304346

Variant Present in the following documents:

• Main text

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An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Barela, Arthur J AJ; Waddy, Salina P SP; Lickfett, Jay G JG; Hunter, Jessica J; Anido, Aimee A; Helmers, Sandra L SL; Goldin, Alan L AL; Escayg, Andrew A

Publication Date: 2006-03-08

Variant appearance in text: SCN1A: T875M

PubMed Link: 16525050

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sodium channel mutations in epilepsy and other neurological disorders.

The Journal Of Clinical Investigation

Meisler, Miriam H MH; Kearney, Jennifer A JA

Publication Date: 2005-08

Variant appearance in text: SMEI: T875M

PubMed Link: 16075041

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inherited disorders of voltage-gated sodium channels.

The Journal Of Clinical Investigation

George, Alfred L AL

Publication Date: 2005-08

Variant appearance in text: SMEI: T875M

PubMed Link: 16075039

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pain without gain (of function): sodium channel dysfunction in epilepsy.

Epilepsy Currents

Cooper, Edward C EC; Baraban, Scott C SC

Publication Date: 2004

Variant appearance in text: SCN1A: T875M

PubMed Link: 16059485

Variant Present in the following documents:

• Main text

View BVdb publication page

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A plethora of SCN1A mutations: what can they tell us?

Epilepsy Currents

Wallace, Robyn R

Publication Date: 2005

Variant appearance in text: SCN1A: T875M

PubMed Link: 16059449

Variant Present in the following documents:

• Main text

View BVdb publication page

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Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Rhodes, Thomas H TH; Lossin, Christoph C; Vanoye, Carlos G CG; Wang, Dao W DW; George, Alfred L AL

Publication Date: 2004-07-27

Variant appearance in text: SMEI: T875M

PubMed Link: 15263074

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Lossin, Christoph C; Rhodes, Thomas H TH; Desai, Reshma R RR; Vanoye, Carlos G CG; Wang, Dao D; Carniciu, Sanda S; Devinsky, Orrin O; George, Alfred L AL

Publication Date: 2003-12-10

Variant appearance in text: SCN1A: T875M

PubMed Link: 14672992

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Spampanato, J J; Escayg, A A; Meisler, M H MH; Goldin, A L AL

Publication Date: 2001-10-01

Variant appearance in text: SCN1A: T875M

PubMed Link: 11567038

Variant Present in the following documents:

• Main text

View BVdb publication page

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Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

American Journal Of Human Genetics

Wallace, R H RH; Scheffer, I E IE; Barnett, S S; Richards, M M; Dibbens, L L; Desai, R R RR; Lerman-Sagie, T T; Lev, D D; Mazarib, A A; Brand, N N; Ben-Zeev, B B; Goikhman, I I; Singh, R R; Kremmidiotis, G G; Gardner, A A; Sutherland, G R GR; George, A L AL; Mulley, J C JC; Berkovic, S F SF

Publication Date: 2001-04

Variant appearance in text: SCN1A: T875M

PubMed Link: 11254444

Variant Present in the following documents:

• Main text

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A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro.

The Journal Of Physiology

Alekov, A A; Rahman, M M MM; Mitrovic, N N; Lehmann-Horn, F F; Lerche, H H

Publication Date: 2000-12-15

Variant appearance in text: SCN1A: T875M

PubMed Link: 11118488

Variant Present in the following documents:

• Main text

View BVdb publication page

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