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: SCN4A: 3917G>C; Gly1306Ala

PubMed Link: 36865150

Variant Present in the following documents:

• media-2.xlsx, sheet 9

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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: 3917G>C; Gly1306Ala

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.

Bmc Neurology

Nan, Haitian H; Wu, Yunqing Y; Cui, Shilei S; Sun, Houliang H; Wang, Jiawei J; Li, Ying Y; Meng, Lingchao L; Nagasaka, Takamura T; Wu, Liyong L

Publication Date: 2022-01-07

Variant appearance in text: SCN4A: Gly1306Ala

PubMed Link: 34996390

Variant Present in the following documents:

• Main text
• 12883_2021_Article_2538.pdf

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Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.

Bmc Neurology

Nan, Haitian H; Wu, Yunqing Y; Cui, Shilei S; Sun, Houliang H; Wang, Jiawei J; Li, Ying Y; Meng, Lingchao L; Nagasaka, Takamura T; Wu, Liyong L

Publication Date: 2022-01-07

Variant appearance in text: SCN4A: Gly1306Ala

PubMed Link: 34996390

Variant Present in the following documents:

• Main text
• 12883_2021_Article_2538.pdf

View BVdb publication page

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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: 3917G>C; Gly1306Ala

PubMed Link: 33263785

Variant Present in the following documents:

• Main text
• 415_2020_Article_10328.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: 3917G>C

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: 3917G>C; Gly1306Ala

PubMed Link: 32670189

Variant Present in the following documents:

• Main text
• fneur-11-00593.pdf

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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

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

Töpf, Ana A; Johnson, Katherine K; Bates, Adam A; Phillips, Lauren L; Chao, Katherine R KR; England, Eleina M EM; Laricchia, Kristen M KM; Mullen, Thomas T; Valkanas, Elise E; Xu, Liwen L; Bertoli, Marta M; Blain, Alison A; Casasús, Ana B AB; Duff, Jennifer J; Mroczek, Magdalena M; Specht, Sabine S; Lek, Monkol M; Ensini, Monica M; MacArthur, Daniel G DG; , ; Straub, Volker V

Publication Date: 2020-09

Variant appearance in text: SCN4A: 3917G>C; G1306A

PubMed Link: 32528171

Variant Present in the following documents:

• 41436_2020_840_MOESM10_ESM.xlsx, sheet 1

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: SCN4A: 3917G>C; Gly1306Ala

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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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: Gly1306Ala

PubMed Link: 30420713

Variant Present in the following documents:

• Main text
• 41598_2018_Article_34750.pdf

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Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.

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

Lehmann-Horn, Frank F; D'Amico, Adele A; Bertini, Enrico E; Lomonaco, Mauro M; Merlini, Luciano L; Nelson, Kevin R KR; Philippi, Heike H; Siciliano, Gabriele G; Spaans, Frank F; Jurkat-Rott, Karin K

Publication Date: 2017-09

Variant appearance in text: Nav1.4: G1306A

PubMed Link: 29774303

Variant Present in the following documents:

• Main text

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In vivo assessment of muscle membrane properties in the sodium channel myotonias.

Muscle & Nerve

Tan, S Veronica SV; Z'Graggen, Werner J WJ; Hanna, Michael G MG; Bostock, Hugh H

Publication Date: 2018-04

Variant appearance in text: SCN4A: Gly1306Ala

PubMed Link: 28877545

Variant Present in the following documents:

• Main text

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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: SCN4A: 3917G>C; Gly1306Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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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: G1306A

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

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A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.

Journal Of Molecular Neuroscience : Mn

Benhammou, Jihane N JN; Phan, Jennifer J; Lee, Hane H; Ghassemi, Kevin K; Parsons, William W; Grody, Wayne W WW; Pisegna, Joseph R JR

Publication Date: 2017-03

Variant appearance in text: SCN4A: Gly1306Ala

PubMed Link: 28012096

Variant Present in the following documents:

• Main text

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Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.

Neurology

Desaphy, Jean-François JF; Carbonara, Roberta R; D'Amico, Adele A; Modoni, Anna A; Roussel, Julien J; Imbrici, Paola P; Pagliarani, Serena S; Lucchiari, Sabrina S; Lo Monaco, Mauro M; Conte Camerino, Diana D

Publication Date: 2016-05-31

Variant appearance in text: Nav1.4: G1306A

PubMed Link: 27164696

Variant Present in the following documents:

• Main text
• NEUROLOGY2015695692.pdf

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Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.

Iranian Journal Of Neurology

Heidari, Mohammad Mehdi MM; Khatami, Mehri M; Nafissi, Shahriar S; Hesami-Zokai, Faezeh F; Khorrami, Afshin A

Publication Date: 2015-10-07

Variant appearance in text: SCN4A: G1306A

PubMed Link: 26885337

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G1306A

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: G1306A

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: G1306A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.

Journal Of Neurology

Charles, G G; Zheng, C C; Lehmann-Horn, F F; Jurkat-Rott, K K; Levitt, J J

Publication Date: 2013-10

Variant appearance in text: Nav1.4: G1306A

PubMed Link: 23884711

Variant Present in the following documents:

• Main text
• 415_2013_Article_7025.pdf

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Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.

Neuromuscular Disorders : Nmd

Morrow, Jasper M JM; Matthews, Emma E; Raja Rayan, Dipa L DL; Fischmann, Arne A; Sinclair, Christopher D J CD; Reilly, Mary M MM; Thornton, John S JS; Hanna, Michael G MG; Yousry, Tarek A TA

Publication Date: 2013-08

Variant appearance in text: SCN4A: Gly1306Ala

PubMed Link: 23810313

Variant Present in the following documents:

• Main text

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Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.

Brain : A Journal Of Neurology

Trivedi, Jaya R JR; Bundy, Brian B; Statland, Jeffrey J; Salajegheh, Mohammad M; Rayan, Dipa Raja DR; Venance, Shannon L SL; Wang, Yunxia Y; Fialho, Doreen D; Matthews, Emma E; Cleland, James J; Gorham, Nina N; Herbelin, Laura L; Cannon, Stephen S; Amato, Anthony A; Griggs, Robert C RC; Hanna, Michael G MG; Barohn, Richard J RJ; ,

Publication Date: 2013-07

Variant appearance in text: SCN4A: Gly1306Ala

PubMed Link: 23771340

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: Gly1306Ala

PubMed Link: 22250216

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G1306A

PubMed Link: 22016737

Variant Present in the following documents:

• Main text
• fphar-02-00063.pdf

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Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.

Annals Of Neurology

Tan, S Veronica SV; Matthews, Emma E; Barber, Melissa M; Burge, James A JA; Rajakulendran, Sanjeev S; Fialho, Doreen D; Sud, Richa R; Haworth, Andrea A; Koltzenburg, Martin M; Hanna, Michael G MG

Publication Date: 2011-02

Variant appearance in text: SCN4A: G1306A

PubMed Link: 21387378

Variant Present in the following documents:

• Main text

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Sodium channelopathies of skeletal muscle result from gain or loss of function.

Pflugers Archiv : European Journal Of Physiology

Jurkat-Rott, Karin K; Holzherr, Boris B; Fauler, Michael M; Lehmann-Horn, Frank F

Publication Date: 2010-07

Variant appearance in text: SCN4A: G1306A

PubMed Link: 20237798

Variant Present in the following documents:

• Main text
• 424_2010_Article_814.pdf

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The dominant cold-sensitive Out-cold mutants of Drosophila melanogaster have novel missense mutations in the voltage-gated sodium channel gene paralytic.

Genetics

Lindsay, Helen A HA; Baines, Richard R; ffrench-Constant, Richard R; Lilley, Kathryn K; Jacobs, Howard T HT; O'Dell, Kevin M C KM

Publication Date: 2008-10

Variant appearance in text: SCN4A: G1306A

PubMed Link: 18723887

Variant Present in the following documents:

• Main text

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Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker.

The Journal Of General Physiology

Hayward, L J LJ; Brown, R H RH; Cannon, S C SC

Publication Date: 1996-05

Variant appearance in text: SkM1: G1306A

PubMed Link: 8740371

Variant Present in the following documents:

• jg1075559.pdf

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