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: SCN1A: L858H

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.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: SCN1A: L858H

PubMed Link: 32601768

Variant Present in the following documents:

• Main text
• 424_2020_Article_2419.pdf

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Voltage gated sodium channels as therapeutic targets for chronic pain.

Journal Of Pain Research

Ma, Renee Siu Yu RSY; Kayani, Kayani K; Whyte-Oshodi, Danniella D; Whyte-Oshodi, Aiyesha A; Nachiappan, Nitish N; Gnanarajah, Shaene S; Mohammed, Raihan R

Publication Date: 2019

Variant appearance in text: Nav1.1: L858H

PubMed Link: 31564962

Variant Present in the following documents:

• Main text

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The Biophysical Basis Underlying Gating Changes in the p.V1316A Mutant Nav1.7 Channel and the Molecular Pathogenesis of Inherited Erythromelalgia.

Plos Biology

Huang, Chiung-Wei CW; Lai, Hsing-Jung HJ; Huang, Po-Yuan PY; Lee, Ming-Jen MJ; Kuo, Chung-Chin CC

Publication Date: 2016-09

Variant appearance in text: Nav1.1: L858H

PubMed Link: 27653502

Variant Present in the following documents:

• pbio.1002561.pdf

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Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents.

The Journal Of Physiology

Theile, Jonathan W JW; Jarecki, Brian W BW; Piekarz, Andrew D AD; Cummins, Theodore R TR

Publication Date: 2011-02-01

Variant appearance in text: Nav1.1: L858H

PubMed Link: 21115638

Variant Present in the following documents:

• Main text

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Pain as a channelopathy.

The Journal Of Clinical Investigation

Raouf, Ramin R; Quick, Kathryn K; Wood, John N JN

Publication Date: 2010-11

Variant appearance in text: SCN1A: L858H

PubMed Link: 21041956

Variant Present in the following documents:

• Main text

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Inherited neuronal ion channelopathies: new windows on complex neurological diseases.

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

Catterall, William A WA; Dib-Hajj, Sulayman S; Meisler, Miriam H MH; Pietrobon, Daniela D

Publication Date: 2008-11-12

Variant appearance in text: SMEI: L858H

PubMed Link: 19005038

Variant Present in the following documents:

• Main text

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Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade.

Molecular Pain

Cheng, Xiaoyang X; Dib-Hajj, Sulayman D SD; Tyrrell, Lynda L; Waxman, Stephen G SG

Publication Date: 2008-01-02

Variant appearance in text: SCN1A: L858H

PubMed Link: 18171466

Variant Present in the following documents:

• 1744-8069-4-1.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: SCN1A: L858H

PubMed Link: 16075041

Variant Present in the following documents:

• Main text

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