PMC Links for Protein (Select 4506805) - PMC

Select item 62013681.

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

Select item 65600872.

Mutations in Na_V1.5 Reveal Calcium-Calmodulin Regulation of Sodium Channel

Eyal Nof, Leonid Vysochek, Eshcar Meisel, Elena Burashnikov, Charles Antzelevitch, Jerome Clatot, Roy Beinart, David Luria, Michael Glikson, Shimrit Oz

Front Physiol. 2019; 10: 700. Published online 2019 Jun 5. doi: 10.3389/fphys.2019.00700

PMCID:: PMC6560087

Abstract Article PDF–3.6M

Select item 53773273.

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients

Maria Teresa Ricci, Silvia Menegon, Simona Vatrano, Giorgia Mandrile, Natascia Cerrato, Paula Carvalho, Mario De Marchi, Fiorenzo Gaita, Carla Giustetto, Daniela Francesca Giachino

Sci Rep. 2014; 4: 6470. Published online 2014 Sep 25. doi: 10.1038/srep06470

PMCID:: PMC5377327

Abstract Article PDF–566K

Select item 36168034.

Array-based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous gene-focused and low resolution whole human genome analysis

Renate Marquis-Nicholson, Elaine Doherty, Jennifer M. Love, Chuan-Ching Lan, Alice M. George, Anthony Thrush, Donald R. Love

Sultan Qaboos Univ Med J. 2013 Feb; 13(1): 69–79. Published online 2013 Feb 27. doi: 10.12816/0003198

PMCID:: PMC3616803

Abstract Article PDF–965K

Select item 32120345.

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 29514826.

Proteomic Profiling of the Epileptic Dentate Gyrus

Aiqing Li, Yun‐Sik Choi, Heather Dziema, Ruifeng Cao, Hee‐Yeon Cho, Yeon Joo Jung, Karl Obrietan

Brain Pathol. 2010 Nov; 20(6): 1077–1089. Published online 2010 May 26. doi: 10.1111/j.1750-3639.2010.00414.x

PMCID:: PMC2951482

Abstract Article PDF–855K

Select item 27499537.

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

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