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Select item 64248051.

Defining the Functional Role of Na_V1.7 in Human Nociception

Lucy A. McDermott, Greg A. Weir, Andreas C. Themistocleous, Andrew R. Segerdahl, Iulia Blesneac, Georgios Baskozos, Alex J. Clark, Val Millar, Liam J. Peck, Daniel Ebner, Irene Tracey, Jordi Serra, David L. Bennett

Neuron. 2019 Mar 6; 101(5): 905–919.e8. doi: 10.1016/j.neuron.2019.01.047

PMCID:: PMC6424805

Article PDF–3.5M

Select item 3981852.

Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells.

N Klugbauer, L Lacinova, V Flockerzi, F Hofmann

EMBO J. 1995 Mar 15; 14(6): 1084–1090. doi: 10.1002/j.1460-2075.1995.tb07091.x

PMCID:: PMC398185

Summary Page Browse PDF–1.4M

Select item 69957333.

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations

Qiang Lu, Liang Shang, Wo Tu Tian, Li Cao, Xue Zhang, Qing Liu

Ann Transl Med. 2020 Jan; 8(1): 8. doi: 10.21037/atm.2019.11.31

PMCID:: PMC6995733

Article PDF–1.1M

Select item 68562964.

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

Ana Fernández-Marmiesse, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Mª Socorro Pérez-Poyato, Ana Fontalba, Francisco Laranjeira, Sofia Quintans, Oana Moldovan, Blanca Felgueroso, Montserrat Rodríguez-Pedreira, Rogelio Simón, Ana Camacho, Pilar Quijada, Salvador Ibanez-Mico, Mª Rosario Domingno, Carmen Benito, Rocío Calvo, Antonia Pérez-Cejas, Mª Llanos Carrasco, Feliciano Ramos, Mª Luz Couce, Mª Luz Ruiz-Falcó, Luis Gutierrez-Solana, Margarita Martínez-Atienza

Front Neurosci. 2019; 13: 1135. Published online 2019 Nov 8. doi: 10.3389/fnins.2019.01135

PMCID:: PMC6856296

Article PDF–1.7M

Select item 68240475.

Over-expression of Nav1.6 channels is associated with lymph node metastases in colorectal cancer

Shuiquan Lin, Yangbo Lv, Jianguang Xu, Xinglong Mao, Zhenhong Chen, Wuguang Lu

World J Surg Oncol. 2019; 17: 175. Published online 2019 Oct 31. doi: 10.1186/s12957-019-1715-4

PMCID:: PMC6824047

Article PDF–3.3M

Select item 67671386.

A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia

Margherita Marchi, Vincenzo Provitera, Maria Nolano, Marcello Romano, Simona Maccora, Ilaria D'Amato, Erika Salvi, Monique Gerrits, Lucio Santoro, Giuseppe Lauria

J Peripher Nerv Syst. 2018 Sep; 23(3): 202–206. Published online 2018 Jul 23. doi: 10.1111/jns.12280

PMCID:: PMC6767138

Article PDF–13M

Select item 67568257.

Deep sequencing analysis to identify novel and rare variants in pain-related genes in patients with acute postoperative pain and high morphine use

Mun-Fai Loke, Heming Wei, Junjie Yeo, Ban-Leong Sng, Alex T Sia, Ene-Choo Tan

J Pain Res. 2019; 12: 2755–2770. Published online 2019 Sep 19. doi: 10.2147/JPR.S213869

PMCID:: PMC6756825

Article PDF–318K

Select item 67323118.

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

Justine Lerat, Corinne Magdelaine, Anne‐Françoise Roux, Léa Darnaud, Hélène Beauvais‐Dzugan, Steven Naud, Laurence Richard, Paco Derouault, Karima Ghorab, Laurent Magy, Jean‐Michel Vallat, Pascal Cintas, Eric Bieth, Marie‐Christine Arne‐Bes, Cyril Goizet, Caroline Espil‐Taris, Hubert Journel, Annick Toutain, Jon Andoni Urtizberea, Odile Boespflug‐Tanguy, Fanny Laffargue, Philippe Corcia, Laurent Pasquier, Mélanie Fradin, Sylva Napuri, Jonathan Ciron, Jean‐Marc Boulesteix, Franck Sturtz, Anne‐Sophie Lia

Mol Genet Genomic Med. 2019 Sep; 7(9): e839. Published online 2019 Aug 8. doi: 10.1002/mgg3.839

PMCID:: PMC6732311

Article PDF–852K

Select item 67055399.

Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli

Yang Yang, Jianying Huang, Malgorzata A. Mis, Mark Estacion, Lawrence Macala, Palak Shah, Betsy R. Schulman, Daniel B. Horton, Sulayman D. Dib-Hajj, Stephen G. Waxman

J Neurosci. 2016 Jul 13; 36(28): 7511–7522. doi: 10.1523/JNEUROSCI.0462-16.2016

PMCID:: PMC6705539

Article PDF–2.0M

Select item 660927410.

Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel

Piotr K Janicki, Victor Ruiz-Velasco, Sanjib Adhikary

Cureus. 2019 May; 11(5): e4587. Published online 2019 May 2. doi: 10.7759/cureus.4587

PMCID:: PMC6609274

Article PDF–335K

Select item 633286211.

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius, Laura Crisponi

BMC Med Genet. 2019; 20: 16. Published online 2019 Jan 14. doi: 10.1186/s12881-019-0745-7

PMCID:: PMC6332862

Article PDF–1.6M

Select item 632349612.

T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature

Kwo Wei David Ho, Nivedita U. Jerath

Case Rep Genet. 2018; 2018: 2618071. Published online 2018 Dec 25. doi: 10.1155/2018/2618071

PMCID:: PMC6323496

Article PDF–977K

Select item 620491713.

Inhibitory effects of cannabidiol on voltage-dependent sodium currents

Mohammad-Reza Ghovanloo, Noah Gregory Shuart, Janette Mezeyova, Richard A. Dean, Peter C. Ruben, Samuel J. Goodchild

J Biol Chem. 2018 Oct 26; 293(43): 16546–16558. Published online 2018 Sep 14. doi: 10.1074/jbc.RA118.004929

PMCID:: PMC6204917

Article PDF–2.8M

Select item 618920614.

Before progressing from “exomes” to “genomes”… don’t forget splicing variants

Samiha S. Shaikh, Michael S. Nahorski, Harjeet Rai, C. Geoffrey Woods

Eur J Hum Genet. 2018 Nov; 26(11): 1559–1562. Published online 2018 Jul 12. doi: 10.1038/s41431-018-0214-3

PMCID:: PMC6189206

Article PDF–708K

Select item 596716115.

Bulleyaconitine A attenuates hyperexcitability of dorsal root ganglion neurons induced by spared nerve injury: The role of preferably blocking Nav1.7 and Nav1.3 channels

Man-Xiu Xie, Jie Yang, Rui-Ping Pang, Wei-An Zeng, Han-Dong Ouyang, Yan-Qing Liu, Xian-Guo Liu

Mol Pain. 2018; 14: 1744806918778491. Published online 2018 May 22. doi: 10.1177/1744806918778491

PMCID:: PMC5967161

Article PDF–1.0M

Select item 582837916.

Rare Na_V1.7 variants associated with painful diabetic peripheral neuropathy

Iulia Blesneac, Andreas C. Themistocleous, Carl Fratter, Linus J. Conrad, Juan D. Ramirez, James J. Cox, Solomon Tesfaye, Pallai R. Shillo, Andrew S.C. Rice, Stephen J. Tucker, David L.H. Bennett

Pain. 2018 Mar; 159(3): 469–480. Published online 2017 Nov 12. doi: 10.1097/j.pain.0000000000001116

PMCID:: PMC5828379

Article PDF–6.3M

Select item 569416117.

Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?

Manuel Rueda, Jennifer L. Wagner, Tierney C. Phillips, Sarah E. Topol, Evan D. Muse, Jonathan R. Lucas, Glenn N. Wagner, Eric J. Topol, Ali Torkamani

Front Cardiovasc Med. 2017; 4: 72. Published online 2017 Nov 9. doi: 10.3389/fcvm.2017.00072

Correction in:: Front Cardiovasc Med. 2017; 4: 90.

PMCID:: PMC5694161

Article PDF–4.8M

Select item 564861918.

Expression and Role of Voltage-Gated Sodium Channels in Human Dorsal Root Ganglion Neurons with Special Focus on Nav1.7, Species Differences, and Regulation by Paclitaxel

Wonseok Chang, Temugin Berta, Yong Ho Kim, Sanghoon Lee, Seok-Yong Lee, Ru-Rong Ji

Neurosci Bull. 2018 Feb; 34(1): 4–12. Published online 2017 Apr 19. doi: 10.1007/s12264-017-0132-3

PMCID:: PMC5648619

Article PDF–2.8M

Select item 540433019.

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

Xiaowei Sylvia Chen, Rose H. Reader, Alexander Hoischen, Joris A. Veltman, Nuala H. Simpson, Clyde Francks, Dianne F. Newbury, Simon E. Fisher

Sci Rep. 2017; 7: 46105. Published online 2017 Apr 25. doi: 10.1038/srep46105

PMCID:: PMC5404330

Article PDF–1.2M

Select item 536376520.

Control of Neurotransmission by NaV1.7 in Human, Guinea Pig, and Mouse Airway Parasympathetic Nerves

Michaela Kocmalova, Marian Kollarik, Brendan. J. Canning, Fei Ru, R. Adam Herbstsomer, Sonya Meeker, Silvia Fonquerna, Monica Aparici, Montserrat Miralpeix, Xian Xuan Chi, Baolin Li, Ben Wilenkin, Jeff McDermott, Eric Nisenbaum, Jeffrey L. Krajewski, Bradley J. Undem

J Pharmacol Exp Ther. 2017 Apr; 361(1): 172–180. Published online 2017 Apr. doi: 10.1124/jpet.116.238469

PMCID:: PMC5363765

Article PDF–1.6M

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