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: SCN4A: 1333G>A; Val445Met

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A transcriptional network of cell cycle dysregulation in noninvasive papillary urothelial carcinoma.

Scientific Reports

Warrick, Joshua I JI; Knowles, Margaret A MA; Hurst, Carolyn D CD; Shuman, Lauren L; Raman, Jay D JD; Walter, Vonn V; Putt, Jeffrey J; Dyrskjøt, Lars L; Groeneveld, Clarice C; Castro, Mauro A A MAA; Robertson, A Gordon AG; DeGraff, David J DJ

Publication Date: 2022-10-03

Variant appearance in text: SCN4A: 1333G>A; V445M

PubMed Link: 36192513

Variant Present in the following documents:

• 41598_2022_20927_MOESM14_ESM.xlsx, sheet 1

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Unwinding and spiral sliding of S4 and domain rotation of VSD during the electromechanical coupling in Nav1.7.

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

Huang, Gaoxingyu G; Wu, Qiurong Q; Li, Zhangqiang Z; Jin, Xueqin X; Huang, Xiaoshuang X; Wu, Tong T; Pan, Xiaojing X; Yan, Nieng N

Publication Date: 2022-08-16

Variant appearance in text: Nav1.4: V445M

PubMed Link: 35878056

Variant Present in the following documents:

• pnas.2209164119.sapp.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: SCN4A: V445M

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita.

Biomedicines

Huang, Chiung-Wei CW; Lai, Hsing-Jung HJ; Lin, Pi-Chen PC; Lee, Ming-Jen MJ

Publication Date: 2021-01-08

Variant appearance in text: SCN4A: V445M

PubMed Link: 33430134

Variant Present in the following documents:

• Main text
• biomedicines-09-00051.pdf

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Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.

Journal Of Neurology

Vereb, Noemi N; Montagnese, Federica F; Gläser, Dieter D; Schoser, Benedikt B

Publication Date: 2021-05

Variant appearance in text: SCN4A: 1333G>A; Val445Met

PubMed Link: 33263785

Variant Present in the following documents:

• Main text
• 415_2020_Article_10328.pdf

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Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor.

Brain Communications

Kubota, Tomoya T; Wu, Fenfen F; Vicart, Savine S; Nakaza, Maki M; Sternberg, Damien D; Watanabe, Daisuke D; Furuta, Mitsuru M; Kokunai, Yosuke Y; Abe, Tatsuya T; Kokubun, Norito N; Fontaine, Bertrand B; Cannon, Stephen C SC; Takahashi, Masanori P MP

Publication Date: 2020

Variant appearance in text: SCN4A: V445M

PubMed Link: 33005891

Variant Present in the following documents:

• fcaa103.pdf

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Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.

Frontiers In Neurology

Maggi, Lorenzo L; Brugnoni, Raffaella R; Canioni, Eleonora E; Tonin, Paola P; Saletti, Veronica V; Sola, Patrizia P; Piccinelli, Stefano Cotti SC; Colleoni, Lara L; Ferrigno, Paola P; Pini, Antonella A; Masson, Riccardo R; Manganelli, Fiore F; Lietti, Daniele D; Vercelli, Liliana L; Ricci, Giulia G; Bruno, Claudio C; Tasca, Giorgio G; Pizzuti, Antonio A; Padovani, Alessandro A; Fusco, Carlo C; Pegoraro, Elena E; Ruggiero, Lucia L; Ravaglia, Sabrina S; Siciliano, Gabriele G; Morandi, Lucia L; Dubbioso, Raffaele R; Mongini, Tiziana T; Filosto, Massimiliano M; Tramacere, Irene I; Mantegazza, Renato R; Bernasconi, Pia P

Publication Date: 2020

Variant appearance in text: SCN4A: 1333G>A

PubMed Link: 32849172

Variant Present in the following documents:

• Main text
• fneur-11-00646.pdf

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Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders.

Frontiers In Neurology

Meyer, Alayne P AP; Roggenbuck, Jennifer J; LoRusso, Samantha S; Kissel, John J; Smith, Rachel M RM; Kline, David D; Arnold, W David WD

Publication Date: 2020

Variant appearance in text: SCN4A: 1333G>A; Val445Met

PubMed Link: 32670189

Variant Present in the following documents:

• Main text
• fneur-11-00593.pdf

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Changes of Resurgent Na+ Currents in the Nav1.4 Channel Resulting from an SCN4A Mutation Contributing to Sodium Channel Myotonia.

International Journal Of Molecular Sciences

Huang, Chiung-Wei CW; Lai, Hsing-Jung HJ; Lin, Pi-Chen PC; Lee, Ming-Jen MJ

Publication Date: 2020-04-08

Variant appearance in text: Nav1.4: V445M

PubMed Link: 32276507

Variant Present in the following documents:

• Main text
• ijms-21-02593.pdf
• ijms-21-02593-s001.pdf

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Anesthetic management of a patient with sodium-channel myotonia: a case report.

Ja Clinical Reports

Matsumoto, Naohisa N; Nishimoto, Rei R; Matsuoka, Yoshikazu Y; Takeda, Yoshimasa Y; Morimatsu, Hiroshi H

Publication Date: 2019-11-25

Variant appearance in text: SCN4A: V445M

PubMed Link: 32026975

Variant Present in the following documents:

• Main text
• 40981_2019_Article_300.pdf

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Diagnostic Efficacy and Therapeutic Decision-making Capacity of an Artificial Intelligence Platform for Childhood Cataracts in Eye Clinics: A Multicentre Randomized Controlled Trial.

Eclinicalmedicine

Lin, Haotian H; Li, Ruiyang R; Liu, Zhenzhen Z; Chen, Jingjing J; Yang, Yahan Y; Chen, Hui H; Lin, Zhuoling Z; Lai, Weiyi W; Long, Erping E; Wu, Xiaohang X; Lin, Duoru D; Zhu, Yi Y; Chen, Chuan C; Wu, Dongxuan D; Yu, Tongyong T; Cao, Qianzhong Q; Li, Xiaoyan X; Li, Jing J; Li, Wangting W; Wang, Jinghui J; Yang, Mingmin M; Hu, Huiling H; Zhang, Li L; Yu, Yang Y; Chen, Xuelan X; Hu, Jianmin J; Zhu, Ke K; Jiang, Shuhong S; Huang, Yalin Y; Tan, Gang G; Huang, Jialing J; Lin, Xiaoming X; Zhang, Xinyu X; Luo, Lixia L; Liu, Yuhua Y; Liu, Xialin X; Cheng, Bing B; Zheng, Danying D; Wu, Mingxing M; Chen, Weirong W; Liu, Yizhi Y

Publication Date: 2019-03

Variant appearance in text: SCN4A: V445M

PubMed Link: 31143882

Variant Present in the following documents:

• main.pdf

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A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.

Scientific Reports

Kokunai, Yosuke Y; Dalle, Carine C; Vicart, Savine S; Sternberg, Damien D; Pouliot, Valérie V; Bendahhou, Said S; Fournier, Emmanuel E; Chahine, Mohamed M; Fontaine, Bertrand B; Nicole, Sophie S

Publication Date: 2018-11-12

Variant appearance in text: SCN4A: V445M

PubMed Link: 30420713

Variant Present in the following documents:

• 41598_2018_Article_34750.pdf

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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: HYPP: V445M

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

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A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia.

Journal Of Neuromuscular Diseases

Ørstavik, Kristin K; Wallace, Sean Ciaran SC; Torbergsen, Torberg T; Abicht, Angela A; Erik Tangsrud, Svein S; Kerty, Emilia E; Rasmussen, Magnhild M

Publication Date: 2015-06-04

Variant appearance in text: SCN4A: V445M

PubMed Link: 27858731

Variant Present in the following documents:

• jnd-2-2-jnd150069.pdf

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Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.

Channels (Austin, Tex.)

Yang, Xinglong X; Jia, Hua H; An, Ran R; Xi, Jing J; Xu, Yanming Y

Publication Date: 2017-01-02

Variant appearance in text: SCN4A: 1333G>A; V445M

PubMed Link: 27415035

Variant Present in the following documents:

• Main text

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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Frontiers In Pharmacology

Loussouarn, Gildas G; Sternberg, Damien D; Nicole, Sophie S; Marionneau, Céline C; Le Bouffant, Francoise F; Toumaniantz, Gilles G; Barc, Julien J; Malak, Olfat A OA; Fressart, Véronique V; Péréon, Yann Y; Baró, Isabelle I; Charpentier, Flavien F

Publication Date: 2015

Variant appearance in text: Nav1.4: V445M

PubMed Link: 26834636

Variant Present in the following documents:

• Main text
• fphar-06-00314.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: HYPP: V445M

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: SCN4A: V445M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol.

Bmc Neurology

Stunnenberg, Bas C BC; Woertman, Willem W; Raaphorst, Joost J; Statland, Jeffrey M JM; Griggs, Robert C RC; Timmermans, Janneke J; Saris, Christiaan G CG; Schouwenberg, Bas J BJ; Groenewoud, Hans M HM; Stegeman, Dick F DF; van Engelen, Baziel G M BG; Drost, Gea G; van der Wilt, Gert Jan GJ

Publication Date: 2015-03-25

Variant appearance in text: SCN4A: V445M

PubMed Link: 25880166

Variant Present in the following documents:

• 12883_2015_Article_294.pdf

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Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.

Channels (Austin, Tex.)

Liu, Xiao-li XL; Huang, Xiao-jun XJ; Luan, Xing-hua XH; Zhou, Hai-yan HY; Wang, Tian T; Wang, Jing-yi JY; Chen, Sheng-di SD; Tang, Hui-dong HD; Cao, Li L

Publication Date: 2015

Variant appearance in text: SCN4A: 1333G>A

PubMed Link: 25839108

Variant Present in the following documents:

• Main text

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In vivo evaluation of antimyotonic efficacy of β-adrenergic drugs in a rat model of myotonia.

Neuropharmacology

Desaphy, Jean-François JF; Costanza, Teresa T; Carbonara, Roberta R; Conte Camerino, Diana D

Publication Date: 2013-02

Variant appearance in text: Nav1.4: V445M

PubMed Link: 23000075

Variant Present in the following documents:

• Main text

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Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.

Eye (London, England)

Du, H H; Grob, S R SR; Zhao, L L; Lee, J J; El-Sahn, M M; Hughes, G G; Luo, J J; Schaf, K K; Duan, Y Y; Quach, J J; Wei, X X; Shaw, P P; Granet, D D; Zhang, K K

Publication Date: 2012-08

Variant appearance in text: SCN4A: V445M

PubMed Link: 22653516

Variant Present in the following documents:

• Main text

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Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.

The Journal Of Physiology

Zhao, Juan J; Duprè, Nicolas N; Puymirat, Jack J; Chahine, Mohamed M

Publication Date: 2012-06-01

Variant appearance in text: SCN4A: V445M

PubMed Link: 22250216

Variant Present in the following documents:

• Main text

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A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Lehmann-Horn, F F; Orth, M M; Kuhn, M M; Jurkat-Rott, K K

Publication Date: 2011-10

Variant appearance in text: SCN4A: V445M

PubMed Link: 22106717

Variant Present in the following documents:

• Main text
• 1128-2460-30-133.pdf

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Skeletal muscle na channel disorders.

Frontiers In Pharmacology

Simkin, Dina D; Bendahhou, Saïd S

Publication Date: 2011

Variant appearance in text: Nav1.4: V445M

PubMed Link: 22016737

Variant Present in the following documents:

• Main text

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Health status in non-dystrophic myotonias: close relation with pain and fatigue.

Journal Of Neurology

Trip, J J; de Vries, J J; Drost, G G; Ginjaar, H B HB; van Engelen, B G M BG; Faber, C G CG

Publication Date: 2009-06

Variant appearance in text: SCN4A: V445M

PubMed Link: 19252786

Variant Present in the following documents:

• Main text

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Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation.

Journal Of Neurology

Trip, J J; Faber, C G CG; Ginjaar, H B HB; van Engelen, B G M BG; Drost, G G

Publication Date: 2007-02

Variant appearance in text: SCN4A: 1333G>A; V445M

PubMed Link: 17334961

Variant Present in the following documents:

• Main text
• 415_2006_Article_353.pdf

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Slow inactivation does not block the aqueous accessibility to the outer pore of voltage-gated Na channels.

The Journal Of General Physiology

Struyk, Arie F AF; Cannon, Stephen C SC

Publication Date: 2002-10

Variant appearance in text: SkM1: V445M

PubMed Link: 12356853

Variant Present in the following documents:

• 20028672.pdf

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Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel.

The Journal Of Physiology

Takahashi, M P MP; Cannon, S C SC

Publication Date: 2001-12-15

Variant appearance in text: SkM1: V445M

PubMed Link: 11744749

Variant Present in the following documents:

• Main text

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