Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: SCN1A: 302G>A; Arg101Gln

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: SCN1A: 302G>A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.

Journal Of Epilepsy Research

Ko, Young Jun YJ; Yoo, Il Han IH; Lee, Jiwon J; Lee, Jeehun J; Yum, Mi-Sun MS; Ko, Tae-Sung TS; Kim, Hunmin H; Hwang, Hee H; Kim, Soo Yeon SY; Chae, Jong-Hee JH; Choi, Ji-Eun JE; Kim, Ki Joong KJ; Lim, Byung Chan BC

Publication Date: 2021-12

Variant appearance in text: SCN1A: 302G>A; Arg101Gln

PubMed Link: 35087721

Variant Present in the following documents:

• jer-21019.pdf

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: R101Q

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

View BVdb publication page

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Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature.

Frontiers In Neurology

Marco Hernández, Ana Victoria AV; Tomás Vila, Miguel M; Caro Llopis, Alfonso A; Monfort, Sandra S; Martinez, Francisco F

Publication Date: 2021

Variant appearance in text: SCN1A: 302G>A

PubMed Link: 34917021

Variant Present in the following documents:

• Main text
• fneur-12-784892.pdf

View BVdb publication page

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Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death.

Journal Of The American Heart Association

Chahal, C Anwar A CAA; Tester, David J DJ; Fayyaz, Ahmed U AU; Jaliparthy, Keerthi K; Khan, Nadeem A NA; Lu, Dongmei D; Khan, Mariha M; Sahoo, Aradhana A; Rajendran, Aiswarya A; Knight, Jennifer A JA; Simpson, Michael A MA; Behr, Elijah R ER; So, Elson L EL; St Louis, Erik K EK; Reichard, R Ross RR; Edwards, William D WD; Ackerman, Michael J MJ; Somers, Virend K VK

Publication Date: 2021-12-07

Variant appearance in text: SCN1A: Arg101Gln

PubMed Link: 34816733

Variant Present in the following documents:

• Main text
• JAH3-10-e021170.pdf

View BVdb publication page

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Gene and Phenotype Expansion of Unexplained Early Infantile Epileptic Encephalopathy.

Frontiers In Neurology

Liu, Xianyu X; Shen, Qiyang Q; Zheng, Guo G; Guo, Hu H; Lu, Xiaopeng X; Wang, Xiaoyu X; Yang, Xiao X; Cao, Zixuan Z; Chen, Jing J

Publication Date: 2021

Variant appearance in text: SCN1A: 302G>A

PubMed Link: 34163418

Variant Present in the following documents:

• Main text
• fneur-12-633637.pdf

View BVdb publication page

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Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Frontiers In Pharmacology

Menezes, Luis Felipe Santos LFS; Sabiá Júnior, Elias Ferreira EF; Tibery, Diogo Vieira DV; Carneiro, Lilian Dos Anjos LDA; Schwartz, Elisabeth Ferroni EF

Publication Date: 2020

Variant appearance in text: SCN1A: R101Q

PubMed Link: 33013363

Variant Present in the following documents:

• Main text
• fphar-11-01276.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: R101Q

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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: 302G>A; R101Q

PubMed Link: 31001185

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: 302G>A; Arg101Gln

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Pediatric Neurology

Butler, Kameryn M KM; da Silva, Cristina C; Alexander, John J JJ; Hegde, Madhuri M; Escayg, Andrew A

Publication Date: 2017-12

Variant appearance in text: SCN1A: 302G>A; Arg101Gln

PubMed Link: 29056246

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: SCN1A: 302G>A; Arg101Gln

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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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: 302G>A; Arg101Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: R101Q

PubMed Link: 28150151

Variant Present in the following documents:

• 13238_2017_Article_372.pdf

View BVdb publication page

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Pitfalls in genetic testing: the story of missed SCN1A mutations.

Molecular Genetics & Genomic Medicine

Djémié, Tania T; Weckhuysen, Sarah S; von Spiczak, Sarah S; Carvill, Gemma L GL; Jaehn, Johanna J; Anttonen, Anna-Kaisa AK; Brilstra, Eva E; Caglayan, Hande S HS; de Kovel, Carolien G CG; Depienne, Christel C; Gaily, Eija E; Gennaro, Elena E; Giraldez, Beatriz G BG; Gormley, Padhraig P; Guerrero-López, Rosa R; Guerrini, Renzo R; Hämäläinen, Eija E; Hartmann, Corinna C; Hernandez-Hernandez, Laura L; Hjalgrim, Helle H; Koeleman, Bobby P C BP; Leguern, Eric E; Lehesjoki, Anna-Elina AE; Lemke, Johannes R JR; Leu, Costin C; Marini, Carla C; McMahon, Jacinta M JM; Mei, Davide D; Møller, Rikke S RS; Muhle, Hiltrud H; Myers, Candace T CT; Nava, Caroline C; Serratosa, Jose M JM; Sisodiya, Sanjay M SM; Stephani, Ulrich U; Striano, Pasquale P; van Kempen, Marjan J A MJ; Verbeek, Nienke E NE; Usluer, Sunay S; Zara, Federico F; Palotie, Aarno A; Mefford, Heather C HC; Scheffer, Ingrid E IE; De Jonghe, Peter P; Helbig, Ingo I; Suls, Arvid A; ,

Publication Date: 2016-07

Variant appearance in text: SCN1A: 302G>A; Arg101Gln

PubMed Link: 27465585

Variant Present in the following documents:

• Main text
• MGG3-4-457.pdf

View BVdb publication page

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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: SCN1A: 302G>A; Arg101Gln

PubMed Link: 26993267

Variant Present in the following documents:

• Main text
• jmedgenet-2015-103263.pdf
• jmedgenet-2015-103263supp_tables.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: R101Q; rs121917918

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: R101Q

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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Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study.

Plos One

Verbeek, Nienke E NE; van der Maas, Nicoline A T NA; Jansen, Floor E FE; van Kempen, Marjan J A MJ; Lindhout, Dick D; Brilstra, Eva H EH

Publication Date: 2013

Variant appearance in text: SCN1A: Arg101Gln

PubMed Link: 23762420

Variant Present in the following documents:

• Main text
• pone.0065758.pdf

View BVdb publication page

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