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Select item 104244331.

Epilepsy-associated SCN2A (Na_V1.2) variants exhibit diverse and complex functional properties

Christopher H. Thompson, Franck Potet, Tatiana V. Abramova, Jean-Marc DeKeyser, Nora F. Ghabra, Carlos G. Vanoye, John J. Millichap, Alfred L. George, Jr

J Gen Physiol. 2023 Oct 2; 155(10): e202313375. Published online 2023 Aug 14. doi: 10.1085/jgp.202313375

PMCID:: PMC10424433

Abstract Article PDF–8.9M

Select item 102817462.

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons

R Asadollahi, I Delvendahl, R Muff, G Tan, D G Rodríguez, S Turan, M Russo, B Oneda, P Joset, P Boonsawat, R Masood, M Mocera, I Ivanovski, A Baumer, R Bachmann-Gagescu, R Schlapbach, H Rehrauer, K Steindl, A Begemann, A Reis, J Winkler, B Winner, M Müller, A Rauch

Hum Mol Genet. 2023 Jul 1; 32(13): 2192–2204. Published online 2023 Apr 3. doi: 10.1093/hmg/ddad048

PMCID:: PMC10281746

Abstract Article PDF–1.9M

Select item 91519173.

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants

Géza Berecki, Katherine B. Howell, Jacqueline Heighway, Nelson Olivier, Jill Rodda, Isabella Overmars, Danique R. M. Vlaskamp, Tyson L. Ware, Simone Ardern-Holmes, Gaetan Lesca, Michael Alber, Pierangelo Veggiotti, Ingrid E. Scheffer, Samuel F. Berkovic, Markus Wolff, Steven Petrou

Commun Biol. 2022; 5: 515. Published online 2022 May 30. doi: 10.1038/s42003-022-03454-1

PMCID:: PMC9151917

Abstract Article PDF–5.1M

Select item 91097894.

Xiao-Ru Yang, Vamsi Krishna Murthy Ginjupalli, Olivier Theriault, Hugo Poulin, Juan Pablo Appendino, Ping Yee Billie Au, Mohamed Chahine

J Neurophysiol. 2022 May 1; 127(5): 1388–1397. Published online 2022 Apr 13. doi: 10.1152/jn.00309.2021

PMCID:: PMC9109789

Abstract Article

Select item 84463265.

Enhanced slow inactivation contributes to dysfunction of a recurrent SCN2A mutation associated with developmental and epileptic encephalopathy

Surobhi Ganguly, Christopher H. Thompson, Alfred L. George, Jr.

J Physiol. Author manuscript; available in PMC 2022 Sep 1.

Published in final edited form as: J Physiol. 2021 Sep; 599(18): 4375–4388. Published online 2021 Aug 9. doi: 10.1113/JP281834

PMCID:: PMC8446326

Abstract Article PDF–2.1M

Select item 71778676.

Differential Inhibition of Human Nav1.2 Resurgent and Persistent Sodium Currents by Cannabidiol and GS967

Emily R. Mason, Theodore R. Cummins

Int J Mol Sci. 2020 Apr; 21(7): 2454. Published online 2020 Apr 1. doi: 10.3390/ijms21072454

PMCID:: PMC7177867

Abstract Article PDF–4.8M

Select item 70548597.

Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants

Christopher H. Thompson, Roy Ben-Shalom, Kevin J. Bender, Alfred L. George, Jr.

J Gen Physiol. 2020 Mar 2; 152(3): e201912442. Published online 2020 Jan 29. doi: 10.1085/jgp.201912442

PMCID:: PMC7054859

Abstract Article PDF–2.5M

Select item 67955548.

Resurgent and Gating Pore Currents Induced by De Novo SCN2A Epilepsy Mutations

Emily R. Mason, Fenfen Wu, Reesha R. Patel, Yucheng Xiao, Stephen C. Cannon, Theodore R. Cummins

eNeuro. 2019 Sep-Oct; 6(5): ENEURO.0141-19.2019. Prepublished online 2019 Sep 26. Published online 2019 Oct 15. doi: 10.1523/ENEURO.0141-19.2019

PMCID:: PMC6795554

Abstract Article PDF–2.3M

Select item 67295329.

A Nonsense Mutation of the Sodium Channel Gene SCN2A in a Patient with Intractable Epilepsy and Mental Decline

Kazusaku Kamiya, Makoto Kaneda, Takashi Sugawara, Emi Mazaki, Nami Okamura, Mauricio Montal, Naomasa Makita, Masaki Tanaka, Katsuyuki Fukushima, Tateki Fujiwara, Yushi Inoue, Kazuhiro Yamakawa

J Neurosci. 2004 Mar 17; 24(11): 2690–2698. doi: 10.1523/JNEUROSCI.3089-03.2004

PMCID:: PMC6729532

Abstract Article PDF–416K

Select item 640808510.

Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report

Qi Huang, Lu Yu, Meigang Ma, Hengchang Qi, Yuan Wu

Medicine (Baltimore) 2019 Feb; 98(8): e14698. Published online 2019 Feb 22. doi: 10.1097/MD.0000000000014698

PMCID:: PMC6408085

Abstract Article PDF–989K

Select item 615299411.

Selective ion permeation involves complexation with carboxylates and lysine in a model human sodium channel

Emelie Flood, Céline Boiteux, Toby W. Allen

PLoS Comput Biol. 2018 Sep; 14(9): e1006398. Published online 2018 Sep 12. doi: 10.1371/journal.pcbi.1006398

PMCID:: PMC6152994

Abstract Article PDF–22M

Select item 601553312.

Progress in understanding and treating SCN2A-mediated disorders

Stephan J. Sanders, Arthur J. Campbell, Jeffrey R. Cottrell, Rikke S. Moller, Florence F. Wagner, Angie L. Auldridge, Raphael A. Bernier, William A. Catterall, Wendy K. Chung, James R. Empfield, Alfred L. George, Jr., Joerg F. Hipp, Omar Khwaja, Evangelos Kiskinis, Dennis Lal, Dheeraj Malhotra, John J. Millichap, Thomas S. Otis, Steven Petrou, Geoffrey Pitt, Leah F. Schust, Cora M. Taylor, Jennifer Tjernagel, John E. Spiro, Kevin J. Bender

Trends Neurosci. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Trends Neurosci. 2018 Jul; 41(7): 442–456. Published online 2018 Apr 23. doi: 10.1016/j.tins.2018.03.011

PMCID:: PMC6015533

Abstract Article PDF–948K

Select item 600444413.

Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy

Géza Berecki, Katherine B. Howell, Yadeesha H. Deerasooriya, Maria Roberta Cilio, Megan K. Oliva, David Kaplan, Ingrid E. Scheffer, Samuel F. Berkovic, Steven Petrou

Proc Natl Acad Sci U S A. 2018 Jun 12; 115(24): E5516–E5525. Published online 2018 May 29. doi: 10.1073/pnas.1800077115

PMCID:: PMC6004444

Abstract Article PDF–1.9M

Select item 486206814.

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh, Rodger Palmer, Deborah Morrogh, Christopher Boustred, Jane A Hurst, Lucy Jenkins, Manju A Kurian, Richard H Scott

J Med Genet. 2016 May; 53(5): 310–317. Published online 2016 Mar 18. doi: 10.1136/jmedgenet-2015-103263

PMCID:: PMC4862068

Abstract Article PDF–443K

Select item 475643315.

Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation

Liam S Carroll, Rebecca Woolf, Yousef Ibrahim, Hywel J Williams, Sarah Dwyer, James Walters, George Kirov, Michael C O’Donovan, Michael J Owen

Psychiatr Genet. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Psychiatr Genet. 2016 Apr; 26(2): 60–65. doi: 10.1097/YPG.0000000000000110

PMCID:: PMC4756433

Abstract Article PDF–341K

Select item 469271416.

A Common Polymorphism in SCN2A Predicts General Cognitive Ability Through Effects on Prefrontal Cortex Physiology

Matthew A. Scult, Joey W. Trampush, Fengyu Zheng, Emily Drabant Conley, Todd Lencz, Anil K. Malhotra, Dwight Dickinson, Daniel R. Weinberger, Ahmad R. Hariri

J Cogn Neurosci. Author manuscript; available in PMC 2015 Dec 28.

Published in final edited form as: J Cogn Neurosci. 2015 Sep; 27(9): 1766–1774. Published online 2015 May 11. doi: 10.1162/jocn_a_00826

PMCID:: PMC4692714

Abstract Article PDF–402K

Select item 456746417.

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

Katherine B. Howell, Jacinta M. McMahon, Gemma L. Carvill, Dimira Tambunan, Mark T. Mackay, Victoria Rodriguez-Casero, Richard Webster, Damian Clark, Jeremy L. Freeman, Sophie Calvert, Heather E. Olson, Simone Mandelstam, Annapurna Poduri, Heather C. Mefford, A. Simon Harvey, Ingrid E. Scheffer

Neurology. 2015 Sep 15; 85(11): 958–966. doi: 10.1212/WNL.0000000000001926

PMCID:: PMC4567464

Abstract Article PDF–832K

Select item 416081218.

Differential effects of common variants in SCN2A on general cognitive ability, brain physiology and mRNA expression in schizophrenia cases and controls

Dwight Dickinson, Richard E. Straub, Joey W. Trampush, Yuan Gao, Ningping Feng, Bin Xie, Joo Heon Shin, Hun Ki Lim, Gianluca Ursini, Kristin L. Bigos, Bhaskar Kolachana, Ryota Hashimoto, Masatoshi Takeda, Graham L. Baum, Dan Rujescu, Joseph H. Callicott, Thomas M. Hyde, Karen F. Berman, Joel E. Kleinman, Daniel R. Weinberger

JAMA Psychiatry. Author manuscript; available in PMC 2014 Sep 11.

Published in final edited form as: JAMA Psychiatry. 2014 Jun; 71(6): 647–656. doi: 10.1001/jamapsychiatry.2014.157

Correction in:: volume 71 on page 840

PMCID:: PMC4160812

Abstract Article PDF–459K

Select item 386848919.

Regulation of Cu-Zn superoxide dismutase on SCN2A in SH-SY5Y cells as a potential therapy for temporal lobe epilepsy

JUN XIANG, YUGANG JIANG

Mol Med Rep. 2014 Jan; 9(1): 16–22. Published online 2013 Nov 11. doi: 10.3892/mmr.2013.1790

PMCID:: PMC3868489

Abstract Article PDF–831K

Select item 386843720.

SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism

Senthil K Sundaram, Harry T Chugani, Vijay N Tiwari, AHM M Huq

Pediatr Neurol. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: Pediatr Neurol. 2013 Jul; 49(1): 10.1016/j.pediatrneurol.2013.03.002. doi: 10.1016/j.pediatrneurol.2013.03.002

PMCID:: PMC3868437

Abstract Article PDF–380K

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