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: 1178G>A; Arg393His

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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Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.

Hgg Advances

French, Courtney E CE; Dolling, Helen H; Mégy, Karyn K; Sanchis-Juan, Alba A; Kumar, Ajay A; Delon, Isabelle I; Wakeling, Matthew M; Mallin, Lucy L; Agrawal, Shruti S; Austin, Topun T; Walston, Florence F; Park, Soo-Mi SM; Parker, Alasdair A; Piyasena, Chinthika C; Bradbury, Kimberley K; , ; Ellard, Sian S; Rowitch, David H DH; Raymond, F Lucy FL

Publication Date: 2022-07-14

Variant appearance in text: SCN1A: 1178G>A; Arg393His

PubMed Link: 35586607

Variant Present in the following documents:

• mmc2.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: 1178G>A; Arg393His

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: R393H

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

View BVdb publication page

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Artificial Intelligence, Machine Learning and Deep Learning in Ion Channel Bioinformatics.

Membranes

Ashrafuzzaman, Md M

Publication Date: 2021-08-31

Variant appearance in text: SCN1A: R393H

PubMed Link: 34564489

Variant Present in the following documents:

• Main text
• membranes-11-00672.pdf

View BVdb publication page

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Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.

Plos One

Gall, Kimberly K; Izzo, Emanuela E; Seppälä, Eija H EH; Alakurtti, Kirsi K; Koskinen, Lotta L; Saarinen, Inka I; Singh, Akashdeep A; Myllykangas, Samuel S; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP

Publication Date: 2021

Variant appearance in text: SCN1A: 1178G>A

PubMed Link: 34469436

Variant Present in the following documents:

• pone.0255933.pdf

View BVdb publication page

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Late diagnoses of Dravet syndrome: How many individuals are we missing?

Epilepsia Open

Silvennoinen, Katri K; Puvirajasinghe, Clinda C; Hudgell, Kirsty K; Sidhu, Meneka K MK; Martins Custodio, Helena H; , ; Jones, Wendy D WD; Balestrini, Simona S; Sisodiya, Sanjay M SM

Publication Date: 2021-12

Variant appearance in text: SCN1A: 1178G>A; Arg393His

PubMed Link: 34268891

Variant Present in the following documents:

• Main text
• EPI4-6-770.pdf

View BVdb publication page

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Late diagnoses of Dravet syndrome: How many individuals are we missing?

Epilepsia Open

Silvennoinen, Katri K; Puvirajasinghe, Clinda C; Hudgell, Kirsty K; Sidhu, Meneka K MK; Martins Custodio, Helena H; , ; Jones, Wendy D WD; Balestrini, Simona S; Sisodiya, Sanjay M SM

Publication Date: 2021-12

Variant appearance in text: SCN1A: 1178G>A; Arg393His

PubMed Link: 34268891

Variant Present in the following documents:

• Main text
• EPI4-6-770.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: 1178G>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: R393H

PubMed Link: 33013363

Variant Present in the following documents:

• Main text
• fphar-11-01276.pdf

View BVdb publication page

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Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.

Molecular Genetics & Genomic Medicine

Lee, Jiwon J; Lee, Chung C; Ki, Chang-Seok CS; Lee, Jeehun J

Publication Date: 2020-09

Variant appearance in text: SCN1A: 1178G>A

PubMed Link: 32613771

Variant Present in the following documents:

• Main text
• MGG3-8-e1376.pdf

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: 1178G>A; Arg393His

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.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: 1178G>A; Arg393His

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.

Intensive Care Medicine

French, Courtney E CE; Delon, Isabelle I; Dolling, Helen H; Sanchis-Juan, Alba A; Shamardina, Olga O; Mégy, Karyn K; Abbs, Stephen S; Austin, Topun T; Bowdin, Sarah S; Branco, Ricardo G RG; Firth, Helen H; , ; , ; Rowitch, David H DH; Raymond, F Lucy FL

Publication Date: 2019-05

Variant appearance in text: SCN1A: 1178G>A

PubMed Link: 30847515

Variant Present in the following documents:

• 134_2019_5552_MOESM1_ESM.pdf

View BVdb publication page

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Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.

Orphanet Journal Of Rare Diseases

Staněk, David D; Laššuthová, Petra P; Štěrbová, Katalin K; Vlčková, Markéta M; Neupauerová, Jana J; Krůtová, Marcela M; Seeman, Pavel P

Publication Date: 2018-05-02

Variant appearance in text: SCN1A: 1178G>A; Arg393His

PubMed Link: 29720203

Variant Present in the following documents:

• Main text
• 13023_2018_Article_812.pdf

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: 1178G>A; Arg393His

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: 1178G>A; Arg393His

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: R393H

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 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: 1178G>A; Arg393His

PubMed Link: 27465585

Variant Present in the following documents:

• Main text
• MGG3-4-457.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: R393H; rs121917927

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: R393H

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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Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

The European Journal Of Neuroscience

Volkers, Linda L; Kahlig, Kristopher M KM; Verbeek, Nienke E NE; Das, Joost H G JH; van Kempen, Marjan J A MJ; Stroink, Hans H; Augustijn, Paul P; van Nieuwenhuizen, Onno O; Lindhout, Dick D; George, Alfred L AL; Koeleman, Bobby P C BP; Rook, Martin B MB

Publication Date: 2011-10

Variant appearance in text: SCN1A: R393H

PubMed Link: 21864321

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.

Cell

Klassen, Tara T; Davis, Caleb C; Goldman, Alica A; Burgess, Dan D; Chen, Tim T; Wheeler, David D; McPherson, John J; Bourquin, Traci T; Lewis, Lora L; Villasana, Donna D; Morgan, Margaret M; Muzny, Donna D; Gibbs, Richard R; Noebels, Jeffrey J

Publication Date: 2011-06-24

Variant appearance in text: SCN1A: R393H

PubMed Link: 21703448

Variant Present in the following documents:

• Main text

View BVdb publication page

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