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: SCN1B: 363C>G; Cys121Trp

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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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: C121W

PubMed Link: 36374051

Variant Present in the following documents:

• Main text
• BMJ-40-13.pdf

View BVdb publication page

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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Jama Neurology

McKnight, Dianalee D; Morales, Ana A; Hatchell, Kathryn E KE; Bristow, Sara L SL; Bonkowsky, Joshua L JL; Perry, Michael Scott MS; Berg, Anne T AT; Borlot, Felippe F; Esplin, Edward D ED; Moretz, Chad C; Angione, Katie K; Ríos-Pohl, Loreto L; Nussbaum, Robert L RL; Aradhya, Swaroop S; , ; Haldeman-Englert, Chad R CR; Levy, Rebecca J RJ; Parachuri, Venu G VG; Lay-Son, Guillermo G; de Montellano, David J Dávila-Ortiz DJD; Ramirez-Garcia, Miguel Angel MA; Benítez Alonso, Edmar O EO; Ziobro, Julie J; Chirita-Emandi, Adela A; Felix, Temis M TM; Kulasa-Luke, Dianne D; Megarbane, Andre A; Karkare, Shefali S; Chagnon, Sarah L SL; Humberson, Jennifer B JB; Assaf, Melissa J MJ; Silva, Sebastian S; Zarroli, Katherine K; Boyarchuk, Oksana O; Nelson, Gary R GR; Palmquist, Rachel R; Hammond, Katherine C KC; Hwang, Sean T ST; Boutlier, Susan B SB; Nolan, Melinda M; Batley, Kaitlin Y KY; Chavda, Devraj D; Reyes-Silva, Carlos Alberto CA; Miroshnikov, Oleksandr O; Zuccarelli, Britton B; Amlie-Wolf, Louise L; Wheless, James W JW; Seinfeld, Syndi S; Kanhangad, Manoj M; Freeman, Jeremy L JL; Monroy-Santoyo, Susana S; Rodriguez-Vazquez, Natalia N; Ryan, Monique M MM; Machie, Michelle M; Guerra, Patricio P; Hassan, Muhammad Jawad MJ; Candee, Meghan S MS; Bupp, Caleb P CP; Park, Kristen L KL; Muller, Eric E; Lupo, Pamela P; Pedersen, Robert C RC; Arain, Amir M AM; Murphy, Andrea A; Schatz, Krista K; Mu, Weiyi W; Kalika, Paige M PM; Plaza, Lautaro L; Kellogg, Marissa A MA; Lora, Evelyn G EG; Carson, Robert P RP; Svystilnyk, Victoria V; Venegas, Viviana V; Luke, Rebecca R RR; Jiang, Huiyuan H; Stetsenko, Tetiana T; Dueñas-Roque, Milagros M MM; Trasmonte, Joseph J; Burke, Rebecca J RJ; Hurst, Anna C E ACE; Smith, Douglas M DM; Massingham, Lauren J LJ; Pisani, Laura L; Costin, Carrie E CE; Ostrander, Betsy B; Filloux, Francis M FM; Ananth, Amitha L AL; Mohamed, Ismail S IS; Nechai, Alla A; Dao, Jasmin M JM; Fahey, Michael C MC; Aliu, Ermal E; Falchek, Stephen S; Press, Craig A CA; Treat, Lauren L; Eschbach, Krista K; Starks, Angela A; Kammeyer, Ryan R; Bear, Joshua J JJ; Jacobson, Mona M; Chernuha, Veronika V; Meibos, Bailey B; Wong, Kristen K; Sweney, Matthew T MT; Espinoza, A Chris AC; Van Orman, Colin B CB; Weinstock, Arie A; Kumar, Ashutosh A; Soler-Alfonso, Claudia C; Nolan, Danielle A DA; Raza, Muhammad M; Rojas Carrion, Miguel David MD; Chari, Geetha G; Marsh, Eric D ED; Shiloh-Malawsky, Yael Y; Parikh, Sumit S; Gonzalez-Giraldo, Ernesto E; Fulton, Stephen S; Sogawa, Yoshimi Y; Burns, Kaitlyn K; Malets, Myroslava M; Montiel Blanco, Johnny David JD; Habela, Christa W CW; Wilson, Carey A CA; Guzmán, Guillermo G GG; Pavliuk, Mariia M

Publication Date: 2022-10-31

Variant appearance in text: SCN1B: 363C>G; Cys121Trp

PubMed Link: 36315135

Variant Present in the following documents:

• jamaneurol-e223651-s001.pdf

View BVdb publication page

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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: 363C>G; C121W

PubMed Link: 36291443

Variant Present in the following documents:

• Main text
• children-09-01507.pdf

View BVdb publication page

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: SCN1B: 363C>G; Cys121Trp

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: SCN1B: 363C>G; C121W

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Current Pharmacologic Strategies for Treatment of Intractable Epilepsy in Children.

International Neurourology Journal

Moon, Ja Un JU; Cho, Kyung-Ok KO

Publication Date: 2021-05

Variant appearance in text: SCN1B: C121W

PubMed Link: 34053206

Variant Present in the following documents:

• inj-2142166-083.pdf

View BVdb publication page

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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: C121W

PubMed Link: 33841294

Variant Present in the following documents:

• Main text
• fneur-12-600050.pdf

View BVdb publication page

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Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia.

Translational Psychiatry

Mojarad, Bahareh A BA; Yin, Yue Y; Manshaei, Roozbeh R; Backstrom, Ian I; Costain, Gregory G; Heung, Tracy T; Merico, Daniele D; Marshall, Christian R CR; Bassett, Anne S AS; Yuen, Ryan K C RKC

Publication Date: 2021-02-01

Variant appearance in text: SCN1B: C121W

PubMed Link: 33526774

Variant Present in the following documents:

• Main text
• 41398_2021_Article_1211.pdf

View BVdb publication page

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Sodium channel β1 subunits participate in regulated intramembrane proteolysis-excitation coupling.

Jci Insight

Bouza, Alexandra A AA; Edokobi, Nnamdi N; Hodges, Samantha L SL; Pinsky, Alexa M AM; Offord, James J; Piao, Lin L; Zhao, Yan-Ting YT; Lopatin, Anatoli N AN; Lopez-Santiago, Luis F LF; Isom, Lori L LL

Publication Date: 2021-02-08

Variant appearance in text: SCN1B: C121W

PubMed Link: 33411695

Variant Present in the following documents:

• jciinsight-6-141776.pdf

View BVdb publication page

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Evaluating variants classified as pathogenic in ClinVar in the DDD Study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wright, Caroline F CF; Eberhardt, Ruth Y RY; Constantinou, Panayiotis P; Hurles, Matthew E ME; FitzPatrick, David R DR; Firth, Helen V HV; ,

Publication Date: 2021-03

Variant appearance in text: SCN1B: 363C>G; Cys121Trp

PubMed Link: 33149276

Variant Present in the following documents:

• 41436_2020_1021_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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An SCN1B Variant Affects Both Cardiac-Type (NaV1.5) and Brain-Type (NaV1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders.

Frontiers In Cell And Developmental Biology

Martinez-Moreno, Rebecca R; Selga, Elisabet E; Riuró, Helena H; Carreras, David D; Parnes, Mered M; Srinivasan, Chandra C; Wangler, Michael F MF; Pérez, Guillermo J GJ; Scornik, Fabiana S FS; Brugada, Ramon R

Publication Date: 2020

Variant appearance in text: SCN1B: C121W

PubMed Link: 33134290

Variant Present in the following documents:

• fcell-08-528742.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: SCN1B: C121W

PubMed Link: 33013363

Variant Present in the following documents:

• Main text

View BVdb publication page

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Excitatory and inhibitory neuron defects in a mouse model of Scn1b-linked EIEE52.

Annals Of Clinical And Translational Neurology

Hull, Jacob M JM; O'Malley, Heather A HA; Chen, Chunling C; Yuan, Yukun Y; Denomme, Nicholas N; Bouza, Alexandra A AA; Anumonwo, Charles C; Lopez-Santiago, Luis F LF; Isom, Lori L LL

Publication Date: 2020-11

Variant appearance in text: SCN1B: C121W

PubMed Link: 32979291

Variant Present in the following documents:

• Main text
• ACN3-7-2137.pdf

View BVdb publication page

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Identification of Undetected Monogenic Cardiovascular Disorders.

Journal Of The American College Of Cardiology

Abdulrahim, Jawan W JW; Kwee, Lydia Coulter LC; Alenezi, Fawaz F; Sun, Albert Y AY; Baras, Aris A; Ajayi, Teminioluwa A TA; Henao, Ricardo R; Holley, Christopher L CL; McGarrah, Robert W RW; Daubert, James P JP; Truby, Lauren K LK; Vemulapalli, Sreekanth S; Wang, Andrew A; Khouri, Michel G MG; Shah, Svati H SH

Publication Date: 2020-08-18

Variant appearance in text: SCN1B: Cys121Trp

PubMed Link: 32792077

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia.

Biomedicines

Maksemous, Neven N; Sutherland, Heidi G HG; Smith, Robert A RA; Haupt, Larisa M LM; Griffiths, Lyn R LR

Publication Date: 2020-05-25

Variant appearance in text: SCN1B: 363C>G; Cys121Trp

PubMed Link: 32466254

Variant Present in the following documents:

• Main text
• biomedicines-08-00134.pdf

View BVdb publication page

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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: C121W

PubMed Link: 32303391

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Cys121Trp

PubMed Link: 31709768

Variant Present in the following documents:

• Main text
• ACN3-6-2354.pdf

View BVdb publication page

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Scn1b deletion in adult mice results in seizures and SUDEP.

Annals Of Clinical And Translational Neurology

O'Malley, Heather A HA; Hull, Jacob M JM; Clawson, Brittany C BC; Chen, Chunling C; Owens-Fiestan, Gic G; Jameson, Margaret B MB; Aton, Sara J SJ; Parent, Jack M JM; Isom, Lori L LL

Publication Date: 2019-06

Variant appearance in text: SCN1B: C121W

PubMed Link: 31211177

Variant Present in the following documents:

• Main text

View BVdb publication page

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Delayed maturation of GABAergic signaling in the Scn1a and Scn1b mouse models of Dravet Syndrome.

Scientific Reports

Yuan, Yukun Y; O'Malley, Heather A HA; Smaldino, Melissa A MA; Bouza, Alexandra A AA; Hull, Jacob M JM; Isom, Lori L LL

Publication Date: 2019-04-17

Variant appearance in text: SCN1B: C121W

PubMed Link: 30996233

Variant Present in the following documents:

• 41598_2019_Article_42191.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: SCN1B: 363C>G; Cys121Trp

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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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: C121W

PubMed Link: 30921204

Variant Present in the following documents:

• Main text
• medi-98-e14974.pdf

View BVdb publication page

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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: C121W

PubMed Link: 29740331

Variant Present in the following documents:

• Main text
• fphys-09-00351.pdf

View BVdb publication page

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Differential roles of NaV1.2 and NaV1.6 in regulating neuronal excitability at febrile temperature and distinct contributions to febrile seizures.

Scientific Reports

Ye, Mingyu M; Yang, Jun J; Tian, Cuiping C; Zhu, Qiyu Q; Yin, Luping L; Jiang, Shan S; Yang, Mingpo M; Shu, Yousheng Y

Publication Date: 2018-01-15

Variant appearance in text: SCN1B: C121W

PubMed Link: 29335582

Variant Present in the following documents:

• Main text
• 41598_2017_Article_17344.pdf

View BVdb publication page

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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: rs104894718

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.

Pharmacological Reviews

Oyrer, Julia J; Maljevic, Snezana S; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Petrou, Steven S; Reid, Christopher A CA

Publication Date: 2018-01

Variant appearance in text: SCN1B: C121W

PubMed Link: 29263209

Variant Present in the following documents:

• Main text

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: SCN1B: 363C>G; Cys121Trp

PubMed Link: 29056246

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: C121W

PubMed Link: 28965169

Variant Present in the following documents:

• Main text

View BVdb publication page

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Voltage-gated sodium channel β subunits: The power outside the pore in brain development and disease.

Neuropharmacology

Hull, Jacob M JM; Isom, Lori L LL

Publication Date: 2018-04

Variant appearance in text: SCN1B: C121W

PubMed Link: 28927993

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation E87Q of the β1-subunit impairs the maturation of the cardiac voltage-dependent sodium channel.

Scientific Reports

Baroni, Debora D; Picco, Cristiana C; Moran, Oscar O

Publication Date: 2017-09-06

Variant appearance in text: SCN1B: C121W

PubMed Link: 28878239

Variant Present in the following documents:

• Main text
• 41598_2017_Article_10645.pdf

View BVdb publication page

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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: 363C>G; C121W

PubMed Link: 28717674

Variant Present in the following documents:

• supp_3.4.e163_Table_e-1.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: SCN1B: 363C>G; Cys121Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: C121W

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sodium Channel β Subunits in Epilepsy: Location, Location, Location.

Epilepsy Currents

Kearney, Jennifer A JA

Publication Date: 2017

Variant appearance in text: SCN1B: C121W

PubMed Link: 28331474

Variant Present in the following documents:

• Main text

View BVdb publication page

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Vagus nerve stimulation for genetic epilepsy with febrile seizures plus (GEFS+) accompanying seizures with impaired consciousness.

Epilepsy & Behavior Case Reports

Hanaya, Ryosuke R; Niantiarno, Fajar H FH; Kashida, Yumi Y; Hosoyama, Hiroshi H; Maruyama, Shinsuke S; Otsubo, Toshiaki T; Tanaka, Kazumi K; Ishii, Atsushi A; Hirose, Shinichi S; Arita, Kazunori K

Publication Date: 2017

Variant appearance in text: SCN1B: C121W

PubMed Link: 28070485

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Generation of Febrile Seizures and Subsequent Epileptogenesis.

Neuroscience Bulletin

Feng, Bo B; Chen, Zhong Z

Publication Date: 2016-10

Variant appearance in text: SCN1B: C121W

PubMed Link: 27562688

Variant Present in the following documents:

• Main text

View BVdb publication page

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β1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function.

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

Kruger, Larisa C LC; O'Malley, Heather A HA; Hull, Jacob M JM; Kleeman, Amanda A; Patino, Gustavo A GA; Isom, Lori L LL

Publication Date: 2016-06-08

Variant appearance in text: SCN1B: C121W

PubMed Link: 27277800

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: C121W

PubMed Link: 27216889

Variant Present in the following documents:

• Main text
• srep26618.pdf

View BVdb publication page

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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: C121W

PubMed Link: 27143702

Variant Present in the following documents:

• Main text

View BVdb publication page

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Neonatal and Infantile Epilepsy: Acquired and Genetic Models.

Cold Spring Harbor Perspectives In Medicine

Galanopoulou, Aristea S AS; Moshé, Solomon L SL

Publication Date: 2015-12-04

Variant appearance in text: SCN1B: C121W

PubMed Link: 26637437

Variant Present in the following documents:

• Main text

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: SCN1B: C121W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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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: C121W

PubMed Link: 26042039

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies.

Neurobiology Of Disease

Galanopoulou, Aristea S AS; Moshé, Solomon L SL

Publication Date: 2015-07

Variant appearance in text: SCN1B: C121W

PubMed Link: 25968935

Variant Present in the following documents:

• Main text

View BVdb publication page

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A new look at sodium channel β subunits.

Open Biology

Namadurai, Sivakumar S; Yereddi, Nikitha R NR; Cusdin, Fiona S FS; Huang, Christopher L H CL; Chirgadze, Dimitri Y DY; Jackson, Antony P AP

Publication Date: 2015-01

Variant appearance in text: SCN1B: C121W

PubMed Link: 25567098

Variant Present in the following documents:

• rsob-5-140192.pdf

View BVdb publication page

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SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients.

Scientific Reports

Ricci, Maria Teresa MT; Menegon, Silvia S; Vatrano, Simona S; Mandrile, Giorgia G; Cerrato, Natascia N; Carvalho, Paula P; De Marchi, Mario M; Gaita, Fiorenzo F; Giustetto, Carla C; Giachino, Daniela Francesca DF

Publication Date: 2014-09-25

Variant appearance in text: SCN1B: C121W

PubMed Link: 25253298

Variant Present in the following documents:

• srep06470.pdf

View BVdb publication page

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Presence of epilepsy-associated variants in large exome databases.

Journal Of Neurogenetics

Cherepanova, Natalya S NS; Leslie, Elizabeth E; Ferguson, Polly J PJ; Bamshad, Michael J MJ; Bassuk, Alexander G AG

Publication Date: 2013-06

Variant appearance in text: SCN1B: C121W

PubMed Link: 23527921

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: C121W

PubMed Link: 23216576

Variant Present in the following documents:

• Main text

View BVdb publication page

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Neurological perspectives on voltage-gated sodium channels.

Brain : A Journal Of Neurology

Eijkelkamp, Niels N; Linley, John E JE; Baker, Mark D MD; Minett, Michael S MS; Cregg, Roman R; Werdehausen, Robert R; Rugiero, François F; Wood, John N JN

Publication Date: 2012-09

Variant appearance in text: SCN1B: C121W

PubMed Link: 22961543

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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: 363C>G; Cys121Trp; rs104894718

PubMed Link: 22957248

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• ERT2012-863702.pdf

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Short- and long-term plasticity at the axon initial segment.

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

Grubb, Matthew S MS; Shu, Yousheng Y; Kuba, Hiroshi H; Rasband, Matthew N MN; Wimmer, Verena C VC; Bender, Kevin J KJ

Publication Date: 2011-11-09

Variant appearance in text: SCN1B: C121W

PubMed Link: 22072655

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Na Channel β Subunits: Overachievers of the Ion Channel Family.

Frontiers In Pharmacology

Brackenbury, William J WJ; Isom, Lori L LL

Publication Date: 2011

Variant appearance in text: SCN1B: C121W

PubMed Link: 22007171

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• Main text
• fphar-02-00053.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: C121W

PubMed Link: 21994374

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Pyramidal Neuron Axon Initial Segment Dysregulation in Nav β1 Subunit Epilepsy: A Tip of the Iceberg.

Epilepsy Currents

Anderson, Matthew M

Publication Date: 2011-01

Variant appearance in text: SCN1B: C121W

PubMed Link: 21852865

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Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus.

The Journal Of Clinical Investigation

Wimmer, Verena C VC; Reid, Christopher A CA; Mitchell, Suzanne S; Richards, Kay L KL; Scaf, Byron B BB; Leaw, Bryan T BT; Hill, Elisa L EL; Royeck, Michel M; Horstmann, Marie-Therese MT; Cromer, Brett A BA; Davies, Philip J PJ; Xu, Ruwei R; Lerche, Holger H; Berkovic, Samuel F SF; Beck, Heinz H; Petrou, Steven S

Publication Date: 2010-08

Variant appearance in text: SCN1B: C121W

PubMed Link: 20628201

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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: C121W

PubMed Link: 20375142

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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: C121W

PubMed Link: 19710327

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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: C121W

PubMed Link: 18694383

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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: C121W

PubMed Link: 17694166

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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: C121W

PubMed Link: 17623065

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Persistent sodium current and its role in epilepsy.

Epilepsy Currents

Stafstrom, Carl E CE

Publication Date: 2007

Variant appearance in text: SCN1B: C121W

PubMed Link: 17304346

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