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Select item 111456071.

Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia

Mariagrazia Talarico, Francesco Fortunato, Audrey Labalme, Louis Januel, Nicolas Chatron, Damien Sanlaville, Ilaria Sammarra, Monica Gagliardi, Radha Procopio, Paola Valentino, Grazia Annesi, Gaetan Lesca, Antonio Gambardella

Epilepsia Open. 2024 Jun; 9(3): 951–959. Published online 2024 Mar 27. doi: 10.1002/epi4.12920

PMCID:: PMC11145607

Abstract Article PDF–8.4M

Select item 110915592.

A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia

Carmen Campanale, Paola Laghetti, Ilaria Saltarella, Concetta Altamura, Eleonora Canioni, Emanuele Iosa, Lorenzo Maggi, Raffaella Brugnoni, Paolo Tacconi, Jean-François Desaphy

J Neuromuscul Dis. 2024; 11(3): 725–734. Prepublished online 2024 Mar 1. Published online 2024 Apr 30. doi: 10.3233/JND-230134

PMCID:: PMC11091559

Abstract Article PDF–1.2M

Select item 93023203.

Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people

Yan-Xin Meng, Mei Yu, Chunmiao Liu, Haijuan Zhang, Yuxiu Yang, Jing Zhang

Medicine (Baltimore) 2022 Jul 22; 101(29): e29591. Published online 2022 Jul 22. doi: 10.1097/MD.0000000000029591

PMCID:: PMC9302320

Abstract Article PDF–746K

Select item 88006584.

I1363T突变致人骨骼肌电压门控钠通道快失活受损的机制

Siyang TANG, Jia YE, Yuezhou LI

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2019 Feb 25; 48(1): 12-18. Chinese. Published online 2019 May 9. doi: 10.3785/j.issn.1008-9292.2019.02.03

PMCID:: PMC8800658

Abstract Article PDF–1.0M

Select item 87404655.

Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report

Haitian Nan, Yunqing Wu, Shilei Cui, Houliang Sun, Jiawei Wang, Ying Li, Lingchao Meng, Takamura Nagasaka, Liyong Wu

BMC Neurol. 2022; 22: 17. Published online 2022 Jan 7. doi: 10.1186/s12883-021-02538-5

PMCID:: PMC8740465

Abstract Article PDF–1.4M

Select item 87152416.

Differences in local anaesthetic and antiepileptic binding in the inactivated state of human sodium channel Nav1.4

Amanda Buyan, Aidan A. Whitfield, Ben Corry

Biophys J. 2021 Dec 21; 120(24): 5553–5563. Published online 2021 Nov 11. doi: 10.1016/j.bpj.2021.11.014

PMCID:: PMC8715241

Abstract Article PDF–2.4M

Select item 81650307.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 80426058.

Cannabidiol inhibits the skeletal muscle Nav1.4 by blocking its pore and by altering membrane elasticity

Mohammad-Reza Ghovanloo, Koushik Choudhury, Tagore S. Bandaru, Mohamed A. Fouda, Kaveh Rayani, Radda Rusinova, Tejas Phaterpekar, Karen Nelkenbrecher, Abeline R. Watkins, Damon Poburko, Jenifer Thewalt, Olaf S. Andersen, Lucie Delemotte, Samuel J. Goodchild, Peter C. Ruben

J Gen Physiol. 2021 May 3; 153(5): e202012701. Published online 2021 Apr 9. doi: 10.1085/jgp.202012701

PMCID:: PMC8042605

Abstract Article PDF–7.9M

Select item 79181769.

Functional and Structural Characterization of ClC-1 and Na_v1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients

Oscar Brenes, Raffaella Barbieri, Melissa Vásquez, Rebeca Vindas-Smith, Jeffrey Roig, Adarli Romero, Gerardo del Valle, Luis Bermúdez-Guzmán, Sara Bertelli, Michael Pusch, Fernando Morales

Cells. 2021 Feb; 10(2): 374. Published online 2021 Feb 11. doi: 10.3390/cells10020374

PMCID:: PMC7918176

Abstract Article PDF–26M

Select item 751799410.

Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing

XinYu Tan, SongNian Hu, Zongyu Xie, Hailiang Mei, Yang Liu, Liang Yin, Peng Shi, Qiming Chen, Daoqian Sang

J Int Med Res. 2020 Sep; 48(9): 0300060520953643. Published online 2020 Sep 22. doi: 10.1177/0300060520953643

PMCID:: PMC7517994

Abstract Article PDF–435K

Select item 717762211.

Changes of Resurgent Na⁺ Currents in the Na_v1.4 Channel Resulting from an SCN4A Mutation Contributing to Sodium Channel Myotonia

Chiung-Wei Huang, Hsing-Jung Lai, Pi-Chen Lin, Ming-Jen Lee

Int J Mol Sci. 2020 Apr; 21(7): 2593. Published online 2020 Apr 8. doi: 10.3390/ijms21072593

PMCID:: PMC7177622

Abstract Article PDF–3.2M

Select item 679338412.

Interaction of Muscle and Brain Sodium Channels with Multiple Members of the Syntrophin Family of Dystrophin-Associated Proteins

Stephen H. Gee, Raghavan Madhavan, S. Rock Levinson, John H. Caldwell, Robert Sealock, Stanley C. Froehner

J Neurosci. 1998 Jan 1; 18(1): 128–137. doi: 10.1523/JNEUROSCI.18-01-00128.1998

PMCID:: PMC6793384

Abstract Article PDF–442K

Select item 678265513.

Activation and Inactivation of the Voltage-Gated Sodium Channel: Role of Segment S5 Revealed by a Novel Hyperkalaemic Periodic Paralysis Mutation

Saïd Bendahhou, Theodore R. Cummins, Rabi Tawil, Stephen G. Waxman, Louis J. Ptácek

J Neurosci. 1999 Jun 15; 19(12): 4762–4771. doi: 10.1523/JNEUROSCI.19-12-04762.1999

PMCID:: PMC6782655

Abstract Article PDF–184K

Select item 670861214.

Structural Basis for Gating Pore Current in Periodic Paralysis

Daohua Jiang, Tamer M. Gamal El-Din, Christopher Ing, Peilong Lu, Régis Pomès, Ning Zheng, William A. Catterall

Nature. Author manuscript; available in PMC 2019 Aug 25.

Published in final edited form as: Nature. 2018 May; 557(7706): 590–594. Published online 2018 May 16. doi: 10.1038/s41586-018-0120-4

PMCID:: PMC6708612

Abstract Article PDF–3.7M

Select item 652708215.

Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review

Shan Huang, Wei Zhang, Xueli Chang, Junhong Guo

Channels (Austin) 2019; 13(1): 110–119. Published online 2019 Apr 1. doi: 10.1080/19336950.2019.1600967

PMCID:: PMC6527082

Abstract Article PDF–1.3M

Select item 645376716.

Myasthenic congenital myopathy from recessive mutations at a single residue in Na_V1.4

Nathaniel Elia, Johanna Palmio, Marisol Sampedro Castañeda, Perry B. Shieh, Marbella Quinonez, Tiina Suominen, Michael G. Hanna, Roope Männikkö, Bjarne Udd, Stephen C. Cannon

Neurology. 2019 Mar 26; 92(13): e1405–e1415. doi: 10.1212/WNL.0000000000007185

PMCID:: PMC6453767

Abstract Article PDF–806K

Select item 644763717.

Ca²⁺-dependent regulation of sodium channels Na_V1.4 and Na_V1.5 is controlled by the post-IQ motif

Jesse B. Yoder, Manu Ben-Johny, Federica Farinelli, Lakshmi Srinivasan, Sophie R. Shoemaker, Gordon F. Tomaselli, Sandra B. Gabelli, L. Mario Amzel

Nat Commun. 2019; 10: 1514. Published online 2019 Apr 3. doi: 10.1038/s41467-019-09570-7

PMCID:: PMC6447637

Abstract Article PDF–1.8M

Select item 616668218.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 603946819.

Na_V1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers

Landon Bayless-Edwards, Vern Winston, Frank Lehmann-Horn, Paula Arinze, James R. Groome, Karin Jurkat-Rott

Sci Rep. 2018; 8: 10372. Published online 2018 Jul 10. doi: 10.1038/s41598-018-28594-5

PMCID:: PMC6039468

Abstract Article PDF–3.5M

Select item 593256020.

A genetic modifier suggests that endurance exercise exacerbates Huntington's disease

Silvia Corrochano, Gonzalo Blanco, Debbie Williams, Jessica Wettstein, Michelle Simon, Saumya Kumar, Lee Moir, Thomas Agnew, Michelle Stewart, Allison Landman, Vassilios N Kotiadis, Michael R Duchen, Henning Wackerhage, David C Rubinsztein, Steve D M Brown, Abraham Acevedo-Arozena

Hum Mol Genet. 2018 May 15; 27(10): 1723–1731. Published online 2018 Mar 2. doi: 10.1093/hmg/ddy077

PMCID:: PMC5932560

Abstract Article PDF–596K

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PMC Links for GEO Profiles (Select 78954428) (62)
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Alternative splicing in five tissues (dye-swap)
Alternative splicing in five tissues (dye-swap)
Accession: GDS910

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Homo sapiens biotinidase (BTD), transcript variant 42, non-coding RNA
Homo sapiens biotinidase (BTD), transcript variant 42, non-coding RNA
gi|2247446082|ref|NR_176358.1|

Nucleotide

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