Publications:

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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: N1297K

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.

Frontiers In Neurology

Morales, Fernando F; Pusch, Michael M

Publication Date: 2019

Variant appearance in text: SCN4A: N1297K

PubMed Link: 32010054

Variant Present in the following documents:

• Main text
• fneur-10-01404.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: N1297K

PubMed Link: 29774303

Variant Present in the following documents:

• Main text

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Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

Lancet (London, England)

Männikkö, Roope R; Wong, Leonie L; Tester, David J DJ; Thor, Michael G MG; Sud, Richa R; Kullmann, Dimitri M DM; Sweeney, Mary G MG; Leu, Costin C; Sisodiya, Sanjay M SM; FitzPatrick, David R DR; Evans, Margaret J MJ; Jeffrey, Iona J M IJM; Tfelt-Hansen, Jacob J; Cohen, Marta C MC; Fleming, Peter J PJ; Jaye, Amie A; Simpson, Michael A MA; Ackerman, Michael J MJ; Hanna, Michael G MG; Behr, Elijah R ER; Matthews, Emma E

Publication Date: 2018-04-14

Variant appearance in text: SCN4A: N1297K

PubMed Link: 29605429

Variant Present in the following documents:

• mmc1.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: N1297K

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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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: N1297K

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: N1297K

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: N1297K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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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: N1297K

PubMed Link: 22016737

Variant Present in the following documents:

• Main text
• fphar-02-00063.pdf

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The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.

Brain : A Journal Of Neurology

Matthews, E E; Fialho, D D; Tan, S V SV; Venance, S L SL; Cannon, S C SC; Sternberg, D D; Fontaine, B B; Amato, A A AA; Barohn, R J RJ; Griggs, R C RC; Hanna, M G MG; ,

Publication Date: 2010-01

Variant appearance in text: SCN4A: N1297K

PubMed Link: 19917643

Variant Present in the following documents:

• Main text

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Isolated eyelid closure myotonia in two families with sodium channel myotonia.

Neurogenetics

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

Publication Date: 2010-05

Variant appearance in text: SCN4A: N1297K

PubMed Link: 19876661

Variant Present in the following documents:

• Main text
• 10048_2009_Article_225.pdf

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