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>T; Gly1306Val

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>T; Gly1306Val

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: Nav1.4: G1306V

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: Nav1.4: G1306V

PubMed Link: 34996390

Variant Present in the following documents:

• Main text
• 12883_2021_Article_2538.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: 3917G>T; Gly1306Val

PubMed Link: 33263785

Variant Present in the following documents:

• Main text
• 415_2020_Article_10328.pdf

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The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers.

European Journal Of Neurology

Kruijt, N N; van den Bersselaar, L R LR; Kamsteeg, E J EJ; Verbeeck, W W; Snoeck, M M J MMJ; Everaerd, D S DS; Abdo, W F WF; Jansen, D R M DRM; Erasmus, C E CE; Jungbluth, H H; Voermans, N C NC

Publication Date: 2021-02

Variant appearance in text: SCN4A: Gly1306Val

PubMed Link: 32978841

Variant Present in the following documents:

• Main text
• ENE-28-647.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>T

PubMed Link: 32849172

Variant Present in the following documents:

• Main text
• fneur-11-00646.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: G1306V

PubMed Link: 29774303

Variant Present in the following documents:

• Main text

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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: G1306V

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: G1306V

PubMed Link: 28012096

Variant Present in the following documents:

• Main text

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A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A.

Journal Of Clinical Neurology (Seoul, Korea)

Chung, Ki Wha KW; Yoo, Da Hye DH; Lee, Soo Jung SJ; Choi, Byung Ok BO; Lee, Sang Soo SS

Publication Date: 2016-10

Variant appearance in text: SCN4A: G1306V

PubMed Link: 27486940

Variant Present in the following documents:

• Main text
• jcn-12-509.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: 3917G>T; G1306V

PubMed Link: 27415035

Variant Present in the following documents:

• Main text

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Model systems for studying cellular mechanisms of SCN1A-related epilepsy.

Journal Of Neurophysiology

Schutte, Soleil S SS; Schutte, Ryan J RJ; Barragan, Eden V EV; O'Dowd, Diane K DK

Publication Date: 2016-04

Variant appearance in text: SCN4A: G1306V

PubMed Link: 26843603

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: G1306V

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: G1306V

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: G1306V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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A knock-in model of human epilepsy in Drosophila reveals a novel cellular mechanism associated with heat-induced seizure.

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

Sun, Lei L; Gilligan, Jeff J; Staber, Cynthia C; Schutte, Ryan J RJ; Nguyen, Vivian V; O'Dowd, Diane K DK; Reenan, Robert R

Publication Date: 2012-10-10

Variant appearance in text: SCN4A: G1306V

PubMed Link: 23055484

Variant Present in the following documents:

• Main text

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Effect of sodium channel abundance on Drosophila development, reproductive capacity and aging.

Fly

Garber, Graham G; Smith, Lee Ann LA; Reenan, Robert A RA; Rogina, Blanka B

Publication Date: 2012

Variant appearance in text: SCN4A: G1306V

PubMed Link: 22513411

Variant Present in the following documents:

• Main text

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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: G1306V

PubMed Link: 22016737

Variant Present in the following documents:

• Main text
• fphar-02-00063.pdf

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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: G1306V

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: G1306V

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: G1306V

PubMed Link: 8740371

Variant Present in the following documents:

• jg1075559.pdf

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