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: 253C>T; Arg85Cys

PubMed Link: 36865150

Variant Present in the following documents:

• media-2.xlsx, sheet 9

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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: R85C

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: 253C>T; Arg85Cys

PubMed Link: 36291443

Variant Present in the following documents:

• Main text
• children-09-01507.pdf

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Fenfluramine: A Review of Pharmacology, Clinical Efficacy, and Safety in Epilepsy.

Children (Basel, Switzerland)

Samanta, Debopam D

Publication Date: 2022-08-02

Variant appearance in text: SCN1B: Arg85Cys

PubMed Link: 36010049

Variant Present in the following documents:

• Main text
• children-09-01159.pdf

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Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.

Annals Of Medicine

Alghamdi, Mansour A MA; Al-Eitan, Laith N LN; Asiri, Ashwag A; Rababa'h, Doaa M DM; Alqahtani, Sultan A SA; Aldarami, Mohammed S MS; Alsaeedi, Manar A MA; Almuidh, Raghad S RS; Alzahrani, Abdulbari A AA; Sakah, Ahmad H AH; El Nashar, Eman Mohamad EM; Otaif, Mansour Y MY; Abdel Ghaffar, Nawal F NF

Publication Date: 2022-12

Variant appearance in text: rs786205830

PubMed Link: 35801810

Variant Present in the following documents:

• Main text
• IANN_54_2096257.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: R85C

PubMed Link: 33841294

Variant Present in the following documents:

• Main text
• fneur-12-600050.pdf

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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: SCN1B: R85C

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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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: R85C

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: Arg85Cys

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: R85C

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: R85C

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: R85C

PubMed Link: 29740331

Variant Present in the following documents:

• Main text
• fphys-09-00351.pdf

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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: R85C

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: 253C>T; R85C

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: R85C

PubMed Link: 28488083

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: R85C

PubMed Link: 27216889

Variant Present in the following documents:

• Main text
• srep26618.pdf

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Role of Sodium Channels in Epilepsy.

Cold Spring Harbor Perspectives In Medicine

Kaplan, David I DI; Isom, Lori L LL; Petrou, Steven S

Publication Date: 2016-06-01

Variant appearance in text: SCN1B: R85C

PubMed Link: 27143702

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: R85C

PubMed Link: 26042039

Variant Present in the following documents:

• Main text
• fphar-06-00108.pdf

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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: R85C

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: Arg85Cys

PubMed Link: 22957248

Variant Present in the following documents:

• Main text
• ERT2012-863702.pdf

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Axon initial segment dysfunction in epilepsy.

The Journal Of Physiology

Wimmer, Verena C VC; Reid, Christopher A CA; So, Eva Y-W EY; Berkovic, Samuel F SF; Petrou, Steven S

Publication Date: 2010-06-01

Variant appearance in text: SCN1B: R85C

PubMed Link: 20375142

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: R85C

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: R85C

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: R85C

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: R85C

PubMed Link: 17623065

Variant Present in the following documents:

• Main text

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