PMC Links for Nucleotide (Select 1621320496) - PMC

Select item 61153891.

The invasiveness of human cervical cancer associated to the function of Na_V1.6 channels is mediated by MMP-2 activity

Osbaldo Lopez-Charcas, Ana Maria Espinosa, Ana Alfaro, Zazil Herrera-Carrillo, Belen Ernestina Ramirez-Cordero, Pedro Cortes-Reynosa, Eduardo Perez Salazar, Jaime Berumen, Juan Carlos Gomora

Sci Rep. 2018; 8: 12995. Published online 2018 Aug 29. doi: 10.1038/s41598-018-31364-y

PMCID:: PMC6115389

Abstract Article PDF–3.5M

Select item 60329472.

Partial loss‐of‐function of sodium channel SCN8A in familial isolated myoclonus

Jacy L. Wagnon, Niccolò E. Mencacci, Bryan S. Barker, Eric R. Wengert, Kailash P. Bhatia, Bettina Balint, Miryam Carecchio, Nicholas W. Wood, Manoj K. Patel, Miriam H. Meisler

Hum Mutat. 2018 Jul; 39(7): 965–969. Published online 2018 May 17. doi: 10.1002/humu.23547

PMCID:: PMC6032947

Abstract Article PDF–453K

Select item 68241093.

A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report

Kao-Min Lin, Geng Su, Fengpeng Wang, Xiaobin Zhang, Yuanqing Wang, Jun Ren, Xin Wang, Yi Yao, Ying Zhou

BMC Pediatr. 2019; 19: 400. Published online 2019 Nov 1. doi: 10.1186/s12887-019-1796-9

PMCID:: PMC6824109

Abstract Article PDF–2.6M

Select item 67532184.

Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life

Se Song Jang, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Jong-Il Kim, Byung Chan Lim

Front Neurol. 2019; 10: 988. Published online 2019 Sep 13. doi: 10.3389/fneur.2019.00988

PMCID:: PMC6753218

Abstract Article PDF–761K

Select item 65365925.

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer

Front Neurol. 2019; 10: 434. Published online 2019 May 21. doi: 10.3389/fneur.2019.00434

PMCID:: PMC6536592

Abstract Article PDF–405K

Select item 62049176.

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

Abstract Article PDF–2.8M

Select item 59248217.

Biphasic voltage‐dependent inactivation of human Na_V1.3, 1.6 and 1.7 Na⁺ channels expressed in rodent insulin‐secreting cells

Mahdieh Godazgar, Quan Zhang, Margarita V. Chibalina, Patrik Rorsman

J Physiol. 2018 May 1; 596(9): 1601–1626. Published online 2018 Mar 30. doi: 10.1113/JP275587

PMCID:: PMC5924821

Abstract Article PDF–2.3M

Select item 57220318.

Mutations in Epilepsy and Intellectual Disability Genes in Patients with Features of Rett Syndrome

Heather E. Olson, Dimira Tambunan, Christopher LaCoursiere, Marti Goldenberg, Rebecca Pinsky, Emilie Martin, Eugenia Ho, Omar Khwaja, Walter E. Kaufmann, Annapurna Poduri

Am J Med Genet A. Author manuscript; available in PMC 2017 Dec 8.

Published in final edited form as: Am J Med Genet A. 2015 Sep; 167A(9): 2017–2025. Published online 2015 Apr 25. doi: 10.1002/ajmg.a.37132

PMCID:: PMC5722031

Abstract Article PDF–102K

Select item 56486199.

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

Abstract Article PDF–2.8M

Select item 538423710.

Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching

Ahmed Arafat, Peng Jing, Yuping Ma, Miao Pu, Gai Nan, He Fang, Chen Chen, Yin Fei

Sci Rep. 2017; 7: 46227. Published online 2017 Apr 7. doi: 10.1038/srep46227

PMCID:: PMC5384237

Abstract Article PDF–604K

Select item 445269911.

Regulation of Na_v1.7: A Conserved SCN9A Natural Antisense Transcript Expressed in Dorsal Root Ganglia

Jennifer Koenig, Robert Werdehausen, John E. Linley, Abdella M. Habib, Jeffrey Vernon, Stephane Lolignier, Niels Eijkelkamp, Jing Zhao, Andrei L. Okorokov, C. Geoffrey Woods, John N. Wood, James J. Cox

PLoS One. 2015; 10(6): e0128830. Published online 2015 Jun 2. doi: 10.1371/journal.pone.0128830

PMCID:: PMC4452699

Abstract Article PDF–1.0M

Select item 445246412.

Transcriptome Organization for Chronic Alcohol Abuse in Human Brain

Sean P. Farris, Dhivya Arasappan, Scott Hunicke-Smith, R. Adron Harris, R. Dayne Mayfield

Mol Psychiatry. Author manuscript; available in PMC 2016 May 1.

Published in final edited form as: Mol Psychiatry. 2015 Nov; 20(11): 1438–1447. Published online 2014 Dec 2. doi: 10.1038/mp.2014.159

PMCID:: PMC4452464

Abstract Article PDF–762K

Select item 389911813.

Genome Wide Expression Analysis Suggests Perturbation of Vascular Homeostasis during High Altitude Pulmonary Edema

Manish Sharma, Shashi Bala Singh, Soma Sarkar

PLoS One. 2014; 9(1): e85902. Published online 2014 Jan 22. doi: 10.1371/journal.pone.0085902

PMCID:: PMC3899118

Abstract Article PDF–2.4M

Select item 371191014.

Whole Genome SNP Genotyping and Exome Sequencing Reveal Novel Genetic Variants and Putative Causative Genes in Congenital Hyperinsulinism

Maria Carla Proverbio, Eleonora Mangano, Alessandra Gessi, Roberta Bordoni, Roberta Spinelli, Rosanna Asselta, Paola Sogno Valin, Stefania Di Candia, Ilaria Zamproni, Cecilia Diceglie, Stefano Mora, Manuela Caruso-Nicoletti, Alessandro Salvatoni, Gianluca De Bellis, Cristina Battaglia

PLoS One. 2013; 8(7): e68740. Published online 2013 Jul 15. doi: 10.1371/journal.pone.0068740