Publications:

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Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

Medrxiv : The Preprint Server For Health Sciences

, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF

Publication Date: 2023-02-24

Variant appearance in text: SCN1B: 254G>A; Arg85His

PubMed Link: 36865150

Variant Present in the following documents:

• media-2.xlsx, sheet 9

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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: SCN1B: 254G>A; Arg85His

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-Generation Sequencing Technique.

Balkan Medical Journal

Atlı, Engin E; Gürkan, Hakan H; Güldiken, Babürhan B; Eker, Damla D; Yalçıntepe, Sinem S; Demir, Selma S; Atlı, Emine İkbal Eİ

Publication Date: 2022-11-14

Variant appearance in text: SCN1B: R85H

PubMed Link: 36374051

Variant Present in the following documents:

• Main text
• BMJ-40-13.pdf

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SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy.

Children (Basel, Switzerland)

Zhu, Zahra Z; Bolt, Elizabeth E; Newmaster, Kyra K; Osei-Bonsu, Wendy W; Cohen, Stacey S; Cuddapah, Vishnu Anand VA; Gupta, Siddharth S; Paudel, Sita S; Samanta, Debopam D; Dang, Louis T LT; Carney, Paul R PR; Naik, Sunil S

Publication Date: 2022-10-01

Variant appearance in text: SCN1B: R85H

PubMed Link: 36291443

Variant Present in the following documents:

• Main text
• children-09-01507.pdf

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Molecular Pathology of Sodium Channel Beta-Subunit Variants.

Frontiers In Pharmacology

Angsutararux, Paweorn P; Zhu, Wandi W; Voelker, Taylor L TL; Silva, Jonathan R JR

Publication Date: 2021

Variant appearance in text: SCN1B: R85H

PubMed Link: 34867379

Variant Present in the following documents:

• Main text
• fphar-12-761275.pdf

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Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.

Frontiers In Neurology

Ademuwagun, Ibitayo Abigail IA; Rotimi, Solomon Oladapo SO; Syrbe, Steffen S; Ajamma, Yvonne Ukamaka YU; Adebiyi, Ezekiel E

Publication Date: 2021

Variant appearance in text: SCN1B: R85H

PubMed Link: 33841294

Variant Present in the following documents:

• Main text
• fneur-12-600050.pdf

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Atrial fibrillation-a complex polygenetic disease.

European Journal Of Human Genetics : Ejhg

Andersen, Julie H JH; Andreasen, Laura L; Olesen, Morten S MS

Publication Date: 2021-07

Variant appearance in text: SCN1B: 254G>A; Arg85His

PubMed Link: 33279945

Variant Present in the following documents:

• 41431_2020_784_MOESM3_ESM.xlsx, sheet 1

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Cell-Adhesion Properties of β-Subunits in the Regulation of Cardiomyocyte Sodium Channels.

Biomolecules

Salvage, Samantha C SC; Huang, Christopher L-H CL; Jackson, Antony P AP

Publication Date: 2020-07-01

Variant appearance in text: SCN1B: R85H

PubMed Link: 32630316

Variant Present in the following documents:

• biomolecules-10-00989.pdf

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Dramatic Improvement in Seizures With Phenytoin Treatment in an Individual With Refractory Epilepsy and a SCN1B Variant.

Pediatric Neurology

Dang, Louis T LT; Quinonez, Shane C SC; Becka, Bridget R BR; Isom, Lori L LL; Joshi, Sucheta M SM

Publication Date: 2020-07

Variant appearance in text: SCN1B: R85H

PubMed Link: 32303391

Variant Present in the following documents:

• Main text

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SCN1B-linked early infantile developmental and epileptic encephalopathy.

Annals Of Clinical And Translational Neurology

Aeby, Alec A; Sculier, Claudine C; Bouza, Alexandra A AA; Askar, Brandon B; Lederer, Damien D; Schoonjans, Anne-Sofie AS; Vander Ghinst, Marc M; Ceulemans, Berten B; Offord, James J; Lopez-Santiago, Luis F LF; Isom, Lori L LL

Publication Date: 2019-12

Variant appearance in text: SCN1B: Arg85His

PubMed Link: 31709768

Variant Present in the following documents:

• Main text
• ACN3-6-2354.pdf

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SCN1B and SCN2B gene variants analysis in dravet syndrome patients: Analysis of 22 cases.

Medicine

Gong, Jiao-E JE; Liao, Hong-Mei HM; Long, Hong-Yu HY; Li, Xiang-Min XM; Long, Li-Li LL; Zhou, Luo L; Gu, Wen-Ping WP; Lu, Shao-Hua SH; Qu, Qiang Q; Yang, Li-Min LM; Xiao, Bo B; Qu, Jian J

Publication Date: 2019-03

Variant appearance in text: SCN1B: R85H

PubMed Link: 30921204

Variant Present in the following documents:

• Main text
• medi-98-e14974.pdf

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The adhesion function of the sodium channel beta subunit (β1) contributes to cardiac action potential propagation.

Elife

Veeraraghavan, Rengasayee R; Hoeker, Gregory S GS; Alvarez-Laviada, Anita A; Hoagland, Daniel D; Wan, Xiaoping X; King, D Ryan DR; Sanchez-Alonso, Jose J; Chen, Chunling C; Jourdan, Jane J; Isom, Lori L LL; Deschenes, Isabelle I; Smyth, James W JW; Gorelik, Julia J; Poelzing, Steven S; Gourdie, Robert G RG

Publication Date: 2018-08-14

Variant appearance in text: SCN1B: R85H

PubMed Link: 30106376

Variant Present in the following documents:

• Main text
• elife-37610.pdf

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Voltage-Gated Sodium Channel β1/β1B Subunits Regulate Cardiac Physiology and Pathophysiology.

Frontiers In Physiology

Edokobi, Nnamdi N; Isom, Lori L LL

Publication Date: 2018

Variant appearance in text: SCN1B: R85H

PubMed Link: 29740331

Variant Present in the following documents:

• Main text
• fphys-09-00351.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs16969925

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Voltage-Gated Sodium Channel β Subunits and Their Related Diseases.

Handbook Of Experimental Pharmacology

Bouza, Alexandra A AA; Isom, Lori L LL

Publication Date: 2018

Variant appearance in text: SCN1B: R85H

PubMed Link: 28965169

Variant Present in the following documents:

• Main text

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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: SCN1B: 254G>A; R85H

PubMed Link: 28717674

Variant Present in the following documents:

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

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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: SCN1B: R85H

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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Murine Electrophysiological Models of Cardiac Arrhythmogenesis.

Physiological Reviews

Huang, Christopher L-H CL

Publication Date: 2017-01

Variant appearance in text: SCN1B: R85H

PubMed Link: 27974512

Variant Present in the following documents:

• Main text

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Structure-based site-directed photo-crosslinking analyses of multimeric cell-adhesive interactions of voltage-gated sodium channel β subunits.

Scientific Reports

Shimizu, Hideaki H; Miyazaki, Haruko H; Ohsawa, Noboru N; Shoji, Shisako S; Ishizuka-Katsura, Yoshiko Y; Tosaki, Asako A; Oyama, Fumitaka F; Terada, Takaho T; Sakamoto, Kensaku K; Shirouzu, Mikako M; Sekine, Shun-Ichi S; Nukina, Nobuyuki N; Yokoyama, Shigeyuki S

Publication Date: 2016-05-24

Variant appearance in text: SCN1B: R85H

PubMed Link: 27216889

Variant Present in the following documents:

• Main text
• srep26618.pdf

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Genetic Discoveries in Atrial Fibrillation and Implications for Clinical Practice.

Arrhythmia & Electrophysiology Review

Mahida, Saagar S

Publication Date: 2014-08

Variant appearance in text: SCN1B: R85H

PubMed Link: 26835069

Variant Present in the following documents:

• Main text

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On the multiple roles of the voltage gated sodium channel β1 subunit in genetic diseases.

Frontiers In Pharmacology

Baroni, Debora D; Moran, Oscar O

Publication Date: 2015

Variant appearance in text: SCN1B: R85H

PubMed Link: 26042039

Variant Present in the following documents:

• Main text
• fphar-06-00108.pdf

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Atrial fibrillation: the role of common and rare genetic variants.

European Journal Of Human Genetics : Ejhg

Olesen, Morten S MS; Nielsen, Morten W MW; Haunsø, Stig S; Svendsen, Jesper H JH

Publication Date: 2014-03

Variant appearance in text: SCN1B: 254G>A; Arg85His

PubMed Link: 23838598

Variant Present in the following documents:

• Main text

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Trafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segment.

Epilepsia

Vacher, Helene H; Trimmer, James S JS

Publication Date: 2012-12

Variant appearance in text: SCN1B: R85H

PubMed Link: 23216576

Variant Present in the following documents:

• Main text

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Genetics of temporal lobe epilepsy: a review.

Epilepsy Research And Treatment

Salzmann, Annick A; Malafosse, Alain A

Publication Date: 2012

Variant appearance in text: SCN1B: Arg85His

PubMed Link: 22957248

Variant Present in the following documents:

• Main text
• ERT2012-863702.pdf

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Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy.

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

Patino, Gustavo A GA; Brackenbury, William J WJ; Bao, Yangyang Y; Lopez-Santiago, Luis F LF; O'Malley, Heather A HA; Chen, Chunling C; Calhoun, Jeffrey D JD; Lafrenière, Ron G RG; Cossette, Patrick P; Rouleau, Guy A GA; Isom, Lori L LL

Publication Date: 2011-10-12

Variant appearance in text: SCN1B: R85H

PubMed Link: 21994374

Variant Present in the following documents:

• Main text

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Monogenic atrial fibrillation as pathophysiological paradigms.

Cardiovascular Research

Mahida, Saagar S; Lubitz, Steven A SA; Rienstra, Michiel M; Milan, David J DJ; Ellinor, Patrick T PT

Publication Date: 2011-03-01

Variant appearance in text: SCN1B: R85H

PubMed Link: 21123219

Variant Present in the following documents:

• Main text

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Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation.

Circulation. Arrhythmia And Electrophysiology

Watanabe, Hiroshi H; Darbar, Dawood D; Kaiser, Daniel W DW; Jiramongkolchai, Kim K; Chopra, Sameer S; Donahue, Brian S BS; Kannankeril, Prince J PJ; Roden, Dan M DM

Publication Date: 2009-06

Variant appearance in text:

PubMed Link: 19808477

Variant Present in the following documents:

• Main text

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A functional null mutation of SCN1B in a patient with Dravet syndrome.

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

Patino, Gustavo A GA; Claes, Lieve R F LR; Lopez-Santiago, Luis F LF; Slat, Emily A EA; Dondeti, Raja S R RS; Chen, Chunling C; O'Malley, Heather A HA; Gray, Charles B B CB; Miyazaki, Haruko H; Nukina, Nobuyuki N; Oyama, Fumitaka F; De Jonghe, Peter P; Isom, Lori L LL

Publication Date: 2009-08-26

Variant appearance in text: SCN1B: R85H

PubMed Link: 19710327

Variant Present in the following documents:

• Main text

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Voltage-gated Na+ channels: potential for beta subunits as therapeutic targets.

Expert Opinion On Therapeutic Targets

Brackenbury, William J WJ; Isom, Lori L LL

Publication Date: 2008-09

Variant appearance in text: SCN1B: R85H

PubMed Link: 18694383

Variant Present in the following documents:

• Main text

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The genetics of temporal lobe epilepsy and implications for treatment.

Epilepsy Currents

Abou-Khalil, Bassel W BW

Publication Date: 2007

Variant appearance in text: SCN1B: R85H

PubMed Link: 17694166

Variant Present in the following documents:

• Main text

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Molecular cloning and analysis of zebrafish voltage-gated sodium channel beta subunit genes: implications for the evolution of electrical signaling in vertebrates.

Bmc Evolutionary Biology

Chopra, Sameer S SS; Watanabe, Hiroshi H; Zhong, Tao P TP; Roden, Dan M DM

Publication Date: 2007-07-10

Variant appearance in text: SCN1B: R85H

PubMed Link: 17623065

Variant Present in the following documents:

• Main text

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