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Select item 107435281.

Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A Romanian Cohort Study

Nicoleta-Monica Popa-Fotea, Nicoleta Oprescu, Alexandru Scafa-Udriste, Miruna Mihaela Micheu

Int J Mol Sci. 2023 Dec; 24(24): 17244. Published online 2023 Dec 8. doi: 10.3390/ijms242417244

PMCID:: PMC10743528

Abstract Article PDF–312K

Select item 85857272.

Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function

Marcello Scala, Stephanie Efthymiou, Tipu Sultan, Jolien De Waele, Marta Panciroli, Vincenzo Salpietro, Reza Maroofian, Pasquale Striano, Filip Van Petegem, Henry Houlden, Frank Bosmans

Epilepsia. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: Epilepsia. 2021 Jun; 62(6): e82–e87. Published online 2021 Apr 26. doi: 10.1111/epi.16913

PMCID:: PMC8585727

Abstract Article PDF–750K

Select item 67584633.

Functional and Biochemical Analysis of a Sodium Channel β1 Subunit Mutation Responsible for Generalized Epilepsy with Febrile Seizures Plus Type 1

Laurence S. Meadows, Jyoti Malhotra, Andrew Loukas, Veena Thyagarajan, Kristin A. Kazen-Gillespie, Matthew C. Koopman, Steven Kriegler, Lori L. Isom, David S. Ragsdale

J Neurosci. 2002 Dec 15; 22(24): 10699–10709. doi: 10.1523/JNEUROSCI.22-24-10699.2002

PMCID:: PMC6758463

Abstract Article PDF–423K

Select item 55875434.

Mutation E87Q of the β1-subunit impairs the maturation of the cardiac voltage-dependent sodium channel

Debora Baroni, Cristiana Picco, Oscar Moran

Sci Rep. 2017; 7: 10683. Published online 2017 Sep 6. doi: 10.1038/s41598-017-10645-y

PMCID:: PMC5587543

Abstract Article PDF–4.5M

Select item 33344465.

A Novel Rare Variant in SCN1Bb Linked to Brugada Syndrome and SIDS by Combined Modulation of Na_v1.5 and K_v4.3 Channel Currents

Dan Hu, Hector Barajas-Martínez, Argelia Medeiros-Domingo, Lia Crotti, Christian Veltmann, Rainer Schimpf, Janire Urrutia, Aintzane Alday, Oscar Casis, Ryan Pfeiffer, Elena Burashnikov, Gabriel Caceres, David J. Tester, Christian Wolpert, Martin Borggrefe, Peter Schwartz, Michael J. Ackerman, Charles Antzelevitch

Heart Rhythm. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Heart Rhythm. 2012 May; 9(5): 760–769. Published online 2011 Dec 7. doi: 10.1016/j.hrthm.2011.12.006

PMCID:: PMC3334446

Abstract Article PDF–4.2M

Select item 32120346.

Voltage-Gated Na⁺ Channel β1B: A Secreted Cell Adhesion Molecule Involved in Human Epilepsy

Gustavo A. Patino, William J. Brackenbury, Yangyang Bao, Luis F. Lopez-Santiago, Heather A. O'Malley, Chunling Chen, Jeffrey D. Calhoun, Ron G. Lafrenière, Patrick Cossette, Guy A. Rouleau, Lori L. Isom

J Neurosci. 2011 Oct 12; 31(41): 14577–14591. doi: 10.1523/JNEUROSCI.0361-11.2011

PMCID:: PMC3212034

Abstract Article PDF–2.5M

Select item 22789857.

The sodium channel β-subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart

Ahmed I Fahmi, Manoj Patel, Edward B Stevens, Abigail L Fowden, James Edward John, III, Kevin Lee, Robert Pinnock, Kevin Morgan, Antony P Jackson, Jamie I Vandenberg

J Physiol. 2001 Dec 15; 537(Pt 3): 693–700. doi: 10.1111/j.1469-7793.2001.00693.x

PMCID:: PMC2278985

Abstract Article PDF–341K

Select item 92208238.

Neonatal Scn1b-null mice have sinoatrial node dysfunction, altered atrial structure, and atrial fibrillation

Roberto Ramos-Mondragon, Nnamdi Edokobi, Samantha L. Hodges, Shuyun Wang, Alexandra A. Bouza, Chandrika Canugovi, Caroline Scheuing, Lena Juratli, William R. Abel, Sami F. Noujaim, Nageswara R. Madamanchi, Marschall S. Runge, Luis F. Lopez-Santiago, Lori L. Isom

JCI Insight. 2022 May 23; 7(10): e152050. Published online 2022 May 23. doi: 10.1172/jci.insight.152050

PMCID:: PMC9220823

Abstract Article PDF–2.1M

Select item 73833829.

Sodium channel β1 subunits are post-translationally modified by tyrosine phosphorylation, S-palmitoylation, and regulated intramembrane proteolysis

Alexandra A. Bouza, Julie M. Philippe, Nnamdi Edokobi, Alexa M. Pinsky, James Offord, Jeffrey D. Calhoun, Mariana Lopez-Florán, Luis F. Lopez-Santiago, Paul M. Jenkins, Lori L. Isom

J Biol Chem. 2020 Jul 24; 295(30): 10380–10393. Published online 2020 Jun 5. doi: 10.1074/jbc.RA120.013978

PMCID:: PMC7383382

Abstract Article PDF–2.0M

Select item 620136810.

SCN1Bβ mutations that affect their association with Kv4.3 underlie early repolarization syndrome

Hao Yao, Jun Fan, Yun‐Jiu Cheng, Xu‐Miao Chen, Cheng‐Cheng Ji, Li‐Juan Liu, Zi‐Heng Zheng, Su‐Hua Wu

J Cell Mol Med. 2018 Nov; 22(11): 5639–5647. Published online 2018 Aug 30. doi: 10.1111/jcmm.13839

PMCID:: PMC6201368

Abstract Article PDF–701K

Select item 420031111.

The sodium channel β1 subunit mediates outgrowth of neurite-like processes on breast cancer cells and promotes tumour growth and metastasis

Michaela Nelson, Rebecca Millican-Slater, Lorna C Forrest, William J Brackenbury

Int J Cancer. 2014 Nov 15; 135(10): 2338–2351. Published online 2014 Apr 12. doi: 10.1002/ijc.28890

PMCID:: PMC4200311

Abstract Article PDF–1.2M

Select item 237342312.

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

Hiroshi Watanabe, Tamara T. Koopmann, Solena Le Scouarnec, Tao Yang, Christiana R. Ingram, Jean-Jacques Schott, Sophie Demolombe, Vincent Probst, Frédéric Anselme, Denis Escande, Ans C.P. Wiesfeld, Arne Pfeufer, Stefan Kääb, H.-Erich Wichmann, Can Hasdemir, Yoshifusa Aizawa, Arthur A.M. Wilde, Dan M. Roden, Connie R. Bezzina

J Clin Invest. 2008 Jun 2; 118(6): 2260–2268. Published online 2008 May 8. doi: 10.1172/JCI33891

PMCID:: PMC2373423

Abstract Article PDF–632K

Select item 995048913.

Structure of human Na_V1.6 channel reveals Na⁺ selectivity and pore blockade by 4,9-anhydro-tetrodotoxin

Yue Li, Tian Yuan, Bo Huang, Feng Zhou, Chao Peng, Xiaojing Li, Yunlong Qiu, Bei Yang, Yan Zhao, Zhuo Huang, Daohua Jiang

Nat Commun. 2023; 14: 1030. Published online 2023 Feb 23. doi: 10.1038/s41467-023-36766-9

PMCID:: PMC9950489

Abstract Article PDF–3.0M

Select item 274995314.

A Functional Null Mutation of SCN1B in a Patient with Dravet Syndrome

Gustavo A. Patino, Lieve R. F. Claes, Luis F. Lopez-Santiago, Emily A. Slat, Raja S. R. Dondeti, Chunling Chen, Heather A. O'Malley, Charles B. B. Gray, Haruko Miyazaki, Nobuyuki Nukina, Fumitaka Oyama, Peter De Jonghe, Lori L. Isom

J Neurosci. 2009 Aug 26; 29(34): 10764–10778. doi: 10.1523/JNEUROSCI.2475-09.2009

PMCID:: PMC2749953

Abstract Article PDF–1.6M

Select item 265099515.

Gene-to-Gene Interaction between Sodium Channel-Related Genes in Determining the Risk of Antiepileptic Drug Resistance

Sin-Young Jang, Myeong-Kyu Kim, Kee-Ra Lee, Man-Seok Park, Byeong-Chae Kim, Ki-Hyun Cho, Min-Cheol Lee, Yo-Sik Kim

J Korean Med Sci. 2009 Feb; 24(1): 62–68. Published online 2009 Feb 28. doi: 10.3346/jkms.2009.24.1.62

PMCID:: PMC2650995

Abstract Article PDF–326K

Select item 135136616.

Identification of Functional Voltage-gated Na⁺ Channels in Cultured Human Pulmonary Artery Smooth Muscle Cells

Oleksandr Platoshyn, Carmelle V. Remillard, Ivana Fantozzi, Tiffany Sison, Jason X.-J. Yuan

Pflugers Arch. Author manuscript; available in PMC 2006 Feb 1.

Published in final edited form as: Pflugers Arch. 2005 Nov; 451(2): 380–387. Published online 2005 Jul 29. doi: 10.1007/s00424-005-1478-3

PMCID:: PMC1351366

Abstract Article PDF–560K

Select item 994596917.

Cryo-EM structure of human voltage-gated sodium channel Na_v1.6

Xiao Fan, Jian Huang, Xueqin Jin, Nieng Yan

Proc Natl Acad Sci U S A. 2023 Jan 31; 120(5): e2220578120. Published online 2023 Jan 25. doi: 10.1073/pnas.2220578120

PMCID:: PMC9945969

Abstract Article PDF–2.5M

Select item 936764718.

Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population

Mansour A. Alghamdi, Laith N. AL-Eitan, Ashwag Asiri, Doaa M. Rababa’h, Sultan A. Alqahtani, Mohammed S. Aldarami, Manar A. Alsaeedi, Raghad S. Almuidh, Abdulbari A. Alzahrani, Ahmad H. Sakah, Eman Mohamad El Nashar, Mansour Y. Otaif, Nawal F. Abdel Ghaffar

Ann Med. 2022; 54(1): 1938–1951. Published online 2022 Jul 8. doi: 10.1080/07853890.2022.2096257

PMCID:: PMC9367647

Abstract Article PDF–1.2M

Select item 474830819.

Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy

Jacy L. Wagnon, Bryan S. Barker, James A. Hounshell, Charlotte A. Haaxma, Amy Shealy, Timothy Moss, Sumit Parikh, Ricka D. Messer, Manoj K. Patel, Miriam H. Meisler

Ann Clin Transl Neurol. 2016 Feb; 3(2): 114–123. Published online 2015 Dec 21. doi: 10.1002/acn3.276

PMCID:: PMC4748308

Abstract Article PDF–514K

Select item 427464420.

A Connexin 40 Mutation Associated with a Malignant Variant of Progressive Familial Heart Block Type-1

Naomasa Makita, Akiko Seki, Naokata Sumitomo, Halina Chkourko, Shigetomo Fukuhara, Hiroshi Watanabe, Wataru Shimizu, Connie R. Bezzina, Can Hasdemir, Hideo Mugishima, Takeru Makiyama, Alban Baruteau, Estelle Baron, Minoru Horie, Nobuhisa Hagiwara, Arthur A.M. Wilde, Vincent Probst, Hervé Le Marec, Dan M. Roden, Naoki Mochizuki, Jean-Jacques Schott, Mario Delmar

Circ Arrhythm Electrophysiol. Author manuscript; available in PMC 2014 Dec 23.

Published in final edited form as: Circ Arrhythm Electrophysiol. 2012 Feb; 5(1): 163–172. Published online 2012 Jan 13. doi: 10.1161/CIRCEP.111.967604

PMCID:: PMC4274644

Abstract Article PDF–4.1M

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