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: LQT3: F1449V

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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Phosphorylation of a chronic pain mutation in the voltage-gated sodium channel Nav1.7 increases voltage sensitivity.

The Journal Of Biological Chemistry

Kerth, Clara M CM; Hautvast, Petra P; Körner, Jannis J; Lampert, Angelika A; Meents, Jannis E JE

Publication Date: 2021

Variant appearance in text: Nav1.5: F1449V

PubMed Link: 33361158

Variant Present in the following documents:

• main.pdf

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Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.

Pflugers Archiv : European Journal Of Physiology

Baker, Mark D MD; Nassar, Mohammed A MA

Publication Date: 2020-07

Variant appearance in text: Nav1.5: F1449V

PubMed Link: 32601768

Variant Present in the following documents:

• 424_2020_Article_2419.pdf

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Fibroblast growth factor homologous factor 2 (FGF-13) associates with Nav1.7 in DRG neurons and alters its current properties in an isoform-dependent manner.

Neurobiology Of Pain (Cambridge, Mass.)

Effraim, Philip R PR; Huang, Jianying J; Lampert, Angelika A; Stamboulian, Severine S; Zhao, Peng P; Black, Joel A JA; Dib-Hajj, Sulayman D SD; Waxman, Stephen G SG

Publication Date: 2019

Variant appearance in text: Nav1.5: F1449V

PubMed Link: 31223136

Variant Present in the following documents:

• main.pdf

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Depolarization of the conductance-voltage relationship in the NaV1.5 mutant, E1784K, is due to altered fast inactivation.

Plos One

Peters, Colin H CH; Yu, Alec A; Zhu, Wandi W; Silva, Jonathan R JR; Ruben, Peter C PC

Publication Date: 2017

Variant appearance in text: SCN5A: F1449V

PubMed Link: 28898267

Variant Present in the following documents:

• pone.0184605.pdf

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Bisphenol A binds to the local anesthetic receptor site to block the human cardiac sodium channel.

Plos One

O'Reilly, Andrias O AO; Eberhardt, Esther E; Weidner, Christian C; Alzheimer, Christian C; Wallace, B A BA; Lampert, Angelika A

Publication Date: 2012

Variant appearance in text: Nav1.5: F1449V

PubMed Link: 22848561

Variant Present in the following documents:

• pone.0041667.pdf

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Sodium channel mutations in epilepsy and other neurological disorders.

The Journal Of Clinical Investigation

Meisler, Miriam H MH; Kearney, Jennifer A JA

Publication Date: 2005-08

Variant appearance in text: SCN5A: F1449V

PubMed Link: 16075041

Variant Present in the following documents:

• Main text

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