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: R604H; rs121918769

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.

Human Genomics

Al Anazi, Abdulrahman H AH; Ammar, Ahmed S AS; Al-Hajj, Mahmoud M; Cyrus, Cyril C; Aljaafari, Danah D; Khoda, Iname I; Abdelfatah, Ahmed K AK; Alsulaiman, Abdullah A AA; Alanazi, Firas F; Alanazi, Rawan R; Gandla, Divya D; Lad, Hetal H; Barayan, Samar S; Keating, Brendan J BJ; Al-Ali, Amein K AK

Publication Date: 2022-12-20

Variant appearance in text: SCN1A: 1811G>A; Arg604His; rs121918769

PubMed Link: 36539902

Variant Present in the following documents:

• 40246_2022_444_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: SCN1A: 1811G>A; rs121918769

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SCN1A: R604H; rs121918769

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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: R604H

PubMed Link: 35002916

Variant Present in the following documents:

• Main text
• fneur-12-743726.pdf

View BVdb publication page

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Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.

Journal Of Epilepsy Research

Rahman, Md Mizanur MM; Fatema, Kanij K

Publication Date: 2021-06

Variant appearance in text: SCN1A: 1811G>A; Arg604His

PubMed Link: 34395220

Variant Present in the following documents:

• Main text
• jer-21004.pdf

View BVdb publication page

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Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes.

Stem Cells International

Barajas-Martinez, Hector H; Smith, Maya M; Hu, Dan D; Goodrow, Robert J RJ; Puleo, Colleen C; Hasdemir, Can C; Antzelevitch, Charles C; Pfeiffer, Ryan R; Treat, Jacqueline A JA; Cordeiro, Jonathan M JM

Publication Date: 2020

Variant appearance in text: rs121918769

PubMed Link: 32952569

Variant Present in the following documents:

• Main text
• SCI2020-8842398.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: R604H

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

Jama Network Open

SoRelle, Jeffrey A JA; Pascual, Juan M JM; Gotway, Garrett G; Park, Jason Y JY

Publication Date: 2020-04-01

Variant appearance in text: SCN1A: 1811G>A; Arg604His

PubMed Link: 32347949

Variant Present in the following documents:

• jamanetwopen-3-e203812-s001.pdf

View BVdb publication page

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A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.

Journal Of Clinical Immunology

Novice, Taylor T; Kariminia, Amina A; Del Bel, Kate L KL; Lu, Henry H; Sharma, Mehul M; Lim, Chinten J CJ; Read, Jay J; Lugt, Mark Vander MV; Hannibal, Mark C MC; O'Dwyer, David D; Hosler, Mirie M; Scharnitz, Thomas T; Rizzo, Jason M JM; Zacur, Jennifer J; Priatel, John J; Abdossamadi, Sayeh S; Bohm, Alexandra A; Junker, Anne A; Turvey, Stuart E SE; Schultz, Kirk R KR; Rozmus, Jacob J

Publication Date: 2020-02

Variant appearance in text: SCN1A: R604H; rs121918769

PubMed Link: 31853824

Variant Present in the following documents:

• 10875_2019_731_MOESM1_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: R604H

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications

Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK

Publication Date: 2019-09-19

Variant appearance in text: SCN1A: R604H

PubMed Link: 31537801

Variant Present in the following documents:

• 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Frontiers In Neurology

Gonsales, Marina C MC; Montenegro, Maria Augusta MA; Preto, Paula P; Guerreiro, Marilisa M MM; Coan, Ana Carolina AC; Quast, Monica Paiva MP; Carvalho, Benilton S BS; Lopes-Cendes, Iscia I

Publication Date: 2019

Variant appearance in text: SCN1A: 1811G>A

PubMed Link: 31001185

Variant Present in the following documents:

• Main text
• fneur-10-00289.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: SCN1A: 1811G>A; Arg604His

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations.

Case Reports In Medicine

Alame, Saada S; El-Houwayek, Eliane E; Nava, Caroline C; Sabbagh, Sandra S; Fawaz, Ali A; Gillart, Anne-Celine AC; Hasbini, Dana D; Depienne, Christel C; Mégarbané, André A

Publication Date: 2019

Variant appearance in text: SCN1A: 1811G>A

PubMed Link: 30805006

Variant Present in the following documents:

• Main text
• CRIM2019-5270503.pdf

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: SCN1A: R604H; rs121918769

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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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: SCN1A: 1811G>A; Arg604His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.

Neurology

Cetica, Valentina V; Chiari, Sara S; Mei, Davide D; Parrini, Elena E; Grisotto, Laura L; Marini, Carla C; Pucatti, Daniela D; Ferrari, Annarita A; Sicca, Federico F; Specchio, Nicola N; Trivisano, Marina M; Battaglia, Domenica D; Contaldo, Ilaria I; Zamponi, Nelia N; Petrelli, Cristina C; Granata, Tiziana T; Ragona, Francesca F; Avanzini, Giuliano G; Guerrini, Renzo R

Publication Date: 2017-03-14

Variant appearance in text: SCN1A: Arg604His

PubMed Link: 28202706

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: SCN1A: 1811G>A; R604H; rs121918769

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: SCN1A: R604H

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

Plos One

Lal, Dennis D; Reinthaler, Eva M EM; Dejanovic, Borislav B; May, Patrick P; Thiele, Holger H; Lehesjoki, Anna-Elina AE; Schwarz, Günter G; Riesch, Erik E; Ikram, M Arfan MA; van Duijn, Cornelia M CM; Uitterlinden, Andre G AG; Hofman, Albert A; Steinböck, Hannelore H; Gruber-Sedlmayr, Ursula U; Neophytou, Birgit B; Zara, Federico F; Hahn, Andreas A; , ; , ; Gormley, Padhraig P; Becker, Felicitas F; Weber, Yvonne G YG; Cilio, Maria Roberta MR; Kunz, Wolfram S WS; Krause, Roland R; Zimprich, Fritz F; Lemke, Johannes R JR; Nürnberg, Peter P; Sander, Thomas T; Lerche, Holger H; Neubauer, Bernd A BA

Publication Date: 2016

Variant appearance in text: SCN1A: R604H; rs121918769

PubMed Link: 26990884

Variant Present in the following documents:

• Main text
• pone.0150426.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: R604H; rs121918769

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: R604H

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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Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Human Molecular Genetics

Pagnamenta, Alistair T AT; Howard, Malcolm F MF; Wisniewski, Eva E; Popitsch, Niko N; Knight, Samantha J L SJ; Keays, David A DA; Quaghebeur, Gerardine G; Cox, Helen H; Cox, Phillip P; Balla, Tamas T; Taylor, Jenny C JC; Kini, Usha U

Publication Date: 2015-07-01

Variant appearance in text: SCN1A: 1811G>A; R604H

PubMed Link: 25855803

Variant Present in the following documents:

• supp_ddv117_ddv117supp_table2.xls, sheet 1

View BVdb publication page

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Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?

The Journal Of Headache And Pain

Toldo, Irene I; Bruson, Alice A; Casarin, Alberto A; Salviati, Leonardo L; Boniver, Clementina C; Sartori, Stefano S; Montagna, Pasquale P; Battistella, Pier Antonio PA; Clementi, Maurizio M

Publication Date: 2011-08

Variant appearance in text: SCN1A: R604H

PubMed Link: 21713554

Variant Present in the following documents:

• Main text
• 10194_2011_Article_359.pdf

View BVdb publication page

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A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.

American Journal Of Human Genetics

Escayg, A A; Heils, A A; MacDonald, B T BT; Haug, K K; Sander, T T; Meisler, M H MH

Publication Date: 2001-04

Variant appearance in text: SCN1A: R604H

PubMed Link: 11254445

Variant Present in the following documents:

• Main text

View BVdb publication page

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