Publications:

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Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)

Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G

Publication Date: 2022-09-01

Variant appearance in text: Nav1.1: R1657C

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.pdf

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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: R1657C

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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Neddylation stabilizes Nav1.1 to maintain interneuron excitability and prevent seizures in murine epilepsy models.

The Journal Of Clinical Investigation

Chen, Wenbing W; Luo, Bin B; Gao, Nannan N; Li, Haiwen H; Wang, Hongsheng H; Li, Lei L; Cui, Wanpeng W; Zhang, Lei L; Sun, Dong D; Liu, Fang F; Dong, Zhaoqi Z; Ren, Xiao X; Zhang, Hongsheng H; Su, Huabo H; Xiong, Wen-Cheng WC; Mei, Lin L

Publication Date: 2021-04-15

Variant appearance in text: SMEI: R1657C

PubMed Link: 33651714

Variant Present in the following documents:

• Main text

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: SCN1A: 4969C>T

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Mutations in SCN3A cause early infantile epileptic encephalopathy.

Annals Of Neurology

Zaman, Tariq T; Helbig, Ingo I; Božović, Ivana Babić IB; DeBrosse, Suzanne D SD; Bergqvist, A Christina AC; Wallis, Kimberly K; Medne, Livija L; Maver, Aleš A; Peterlin, Borut B; Helbig, Katherine L KL; Zhang, Xiaohong X; Goldberg, Ethan M EM

Publication Date: 2018-04

Variant appearance in text: SCN1A: Arg1657Cys

PubMed Link: 29466837

Variant Present in the following documents:

• Main text

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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: 4969C>T; Arg1657Cys

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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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: R1657C

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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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: R1657C; rs121918811

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: R1657C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Pathophysiological role of omega pore current in channelopathies.

Frontiers In Pharmacology

Jurkat-Rott, Karin K; Groome, James J; Lehmann-Horn, Frank F

Publication Date: 2012

Variant appearance in text: SCN1A: R1657C

PubMed Link: 22701429

Variant Present in the following documents:

• Main text
• fphar-03-00112.pdf

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Sodium channel SCN1A and epilepsy: mutations and mechanisms.

Epilepsia

Escayg, Andrew A; Goldin, Alan L AL

Publication Date: 2010-09

Variant appearance in text: SCN1A: R1657C

PubMed Link: 20831750

Variant Present in the following documents:

• Main text

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NaV1.1 channels and epilepsy.

The Journal Of Physiology

Catterall, William A WA; Kalume, Franck F; Oakley, John C JC

Publication Date: 2010-06-01

Variant appearance in text: SMEI: R1657C

PubMed Link: 20194124

Variant Present in the following documents:

• Main text

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(What to do) when epilepsy gene mutations stop making sense.

Epilepsy Currents

Cooper, Edward C EC

Publication Date: 2007

Variant appearance in text: SCN1A: R1657C

PubMed Link: 17304347

Variant Present in the following documents:

• Main text

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An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.

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

Barela, Arthur J AJ; Waddy, Salina P SP; Lickfett, Jay G JG; Hunter, Jessica J; Anido, Aimee A; Helmers, Sandra L SL; Goldin, Alan L AL; Escayg, Andrew A

Publication Date: 2006-03-08

Variant appearance in text: SCN1A: R1657C

PubMed Link: 16525050

Variant Present in the following documents:

• Main text

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Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy.

The Journal Of General Physiology

Vanoye, Carlos G CG; Lossin, Christoph C; Rhodes, Thomas H TH; George, Alfred L AL

Publication Date: 2006-01

Variant appearance in text: SCN1A: R1657C

PubMed Link: 16380441

Variant Present in the following documents:

• Main text
• jgp1270001.pdf

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Inherited disorders of voltage-gated sodium channels.

The Journal Of Clinical Investigation

George, Alfred L AL

Publication Date: 2005-08

Variant appearance in text: SMEI: R1657C

PubMed Link: 16075039

Variant Present in the following documents:

• Main text

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Pain without gain (of function): sodium channel dysfunction in epilepsy.

Epilepsy Currents

Cooper, Edward C EC; Baraban, Scott C SC

Publication Date: 2004

Variant appearance in text: SCN1A: R1657C

PubMed Link: 16059485

Variant Present in the following documents:

• Main text

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A plethora of SCN1A mutations: what can they tell us?

Epilepsy Currents

Wallace, Robyn R

Publication Date: 2005

Variant appearance in text: SMEI: R1657C

PubMed Link: 16059449

Variant Present in the following documents:

• Main text

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Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

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

Lossin, Christoph C; Rhodes, Thomas H TH; Desai, Reshma R RR; Vanoye, Carlos G CG; Wang, Dao D; Carniciu, Sanda S; Devinsky, Orrin O; George, Alfred L AL

Publication Date: 2003-12-10

Variant appearance in text: SCN1A: R1657C

PubMed Link: 14672992

Variant Present in the following documents:

• Main text

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