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: W1204R

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.pdf

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SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.

Genes

Cornejo-Sanchez, Diana M DM; Acharya, Anushree A; Bharadwaj, Thashi T; Marin-Gomez, Lizeth L; Pereira-Gomez, Pilar P; Nouel-Saied, Liz M LM; University Of Washington Center For Mendelian Genomics, ; Nickerson, Deborah A DA; Bamshad, Michael J MJ; Mefford, Heather C HC; Schrauwen, Isabelle I; Carrizosa-Moog, Jaime J; Cornejo-Ochoa, William W; Pineda-Trujillo, Nicolas N; Leal, Suzanne M SM

Publication Date: 2022-04-25

Variant appearance in text: FEB3: Trp1204Arg

PubMed Link: 35627139

Variant Present in the following documents:

• Main text
• genes-13-00754.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: W1204R

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.

Diagnostics (Basel, Switzerland)

Varesio, Costanza C; Gana, Simone S; Asaro, Alessia A; Ballante, Elena E; Cabini, Raffaella Fiamma RF; Tartara, Elena E; Bagnaschi, Michela M; Pasca, Ludovica L; Valente, Marialuisa M; Orcesi, Simona S; Cereda, Cristina C; Veggiotti, Pierangelo P; Borgatti, Renato R; Valente, Enza Maria EM; De Giorgis, Valentina V

Publication Date: 2021-05-25

Variant appearance in text: SCN1A: 3610T>C; Trp1204Arg

PubMed Link: 34070668

Variant Present in the following documents:

• Main text
• diagnostics-11-00948.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: W1204R

PubMed Link: 33651714

Variant Present in the following documents:

• Main text

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A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.

Scientific Reports

Kluckova, Daniela D; Kolnikova, Miriam M; Lacinova, Lubica L; Jurkovicova-Tarabova, Bohumila B; Foltan, Tomas T; Demko, Viktor V; Kadasi, Ludevit L; Ficek, Andrej A; Soltysova, Andrea A

Publication Date: 2020-06-24

Variant appearance in text: SCN1A: W1204R

PubMed Link: 32581296

Variant Present in the following documents:

• Main text
• 41598_2020_Article_67215.pdf

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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: 3610T>C; Trp1204Arg

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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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: SCN1A: 3610T>C; W1204R

PubMed Link: 28717674

Variant Present in the following documents:

• supp_3.4.e163_Table_e-1.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: W1204R

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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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: SCN1A: W1204R

PubMed Link: 27562688

Variant Present in the following documents:

• Main text

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Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes.

Human Genomics

Domitrz, Izabela I; Kosiorek, Michalina M; Żekanowski, Cezary C; Kamińska, Anna A

Publication Date: 2016-01-08

Variant appearance in text: SCN1A: W1204R

PubMed Link: 26747084

Variant Present in the following documents:

• Main text
• 40246_2015_Article_57.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: W1204R; rs121917930

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: W1204R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.

Frontiers In Neurology

Wagnon, Jacy L JL; Meisler, Miriam H MH

Publication Date: 2015

Variant appearance in text: SCN1A: W1204R

PubMed Link: 26029160

Variant Present in the following documents:

• fneur-06-00104.pdf

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Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation.

The Journal Of General Physiology

Volkers, Linda L; Kahlig, Kristopher M KM; Das, Joost H G JH; van Kempen, Marjan J A MJ; Lindhout, Dick D; Koeleman, Bobby P C BP; Rook, Martin B MB

Publication Date: 2013-12

Variant appearance in text: Nav1.1: W1204R

PubMed Link: 24277604

Variant Present in the following documents:

• JGP_201311042.pdf

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Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia.

Neuromolecular Medicine

Cregg, Roman R; Laguda, Bisola B; Werdehausen, Robert R; Cox, James J JJ; Linley, John E JE; Ramirez, Juan D JD; Bodi, Istvan I; Markiewicz, Michael M; Howell, Kevin J KJ; Chen, Ya-Chun YC; Agnew, Karen K; Houlden, Henry H; Lunn, Michael P MP; Bennett, David L H DL; Wood, John N JN; Kinali, Maria M

Publication Date: 2013-06

Variant appearance in text: SCN1A: W1204R

PubMed Link: 23292638

Variant Present in the following documents:

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Drosophila as a model for epilepsy: bss is a gain-of-function mutation in the para sodium channel gene that leads to seizures.

Genetics

Parker, Louise L; Padilla, Miguel M; Du, Yuzhe Y; Dong, Ke K; Tanouye, Mark A MA

Publication Date: 2011-02

Variant appearance in text: SCN1A: W1204R

PubMed Link: 21115970

Variant Present in the following documents:

• Main text

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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: W1204R

PubMed Link: 20831750

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: W1204R

PubMed Link: 20194124

Variant Present in the following documents:

• Main text

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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: SCN1A: W1204R

PubMed Link: 17304346

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: W1204R

PubMed Link: 16525050

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

The Journal Of Physiology

Rhodes, Thomas H TH; Vanoye, Carlos G CG; Ohmori, Iori I; Ogiwara, Ikuo I; Yamakawa, Kazuhiro K; George, Alfred L AL

Publication Date: 2005-12-01

Variant appearance in text: SMEI: W1204R

PubMed Link: 16210358

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: W1204R

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: W1204R

PubMed Link: 16059449

Variant Present in the following documents:

• Main text

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Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.

Proceedings Of The National Academy Of Sciences Of The United States Of America

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

Publication Date: 2004-07-27

Variant appearance in text: SMEI: W1204R

PubMed Link: 15263074

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: W1204R

PubMed Link: 14672992

Variant Present in the following documents:

• Main text

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A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.

American Journal Of Human Genetics

Escayg, A A; Heils, A A; MacDonald, B T BT; Haug, K K; Sander, T T; Meisler, M H MH

Publication Date: 2001-04

Variant appearance in text: SCN1A: W1204R

PubMed Link: 11254445

Variant Present in the following documents:

• Main text

View BVdb publication page

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