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Items: 1 to 20 of 40

1.
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
AbstractArticlePDF–416K
2.
Effects in Neocortical Neurons of Mutations of the Nav1.2 Na+ Channel causing Benign Familial Neonatal-Infantile Seizures
Paolo Scalmani, Raffaella Rusconi, Elena Armatura, Federico Zara, Giuliano Avanzini, Silvana Franceschetti, Massimo Mantegazza
J Neurosci. 2006 Oct 4; 26(40): 10100–10109. doi: 10.1523/JNEUROSCI.2476-06.2006
PMCID:
PMC6674637
AbstractArticlePDF–555K
3.
Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy
Takayuki Yokoi, Yumi Enomoto, Yoshinori Tsurusaki, Takuya Naruto, Kenji Kurosawa
Hum Genome Var. 2018; 5: 20. Published online 2018 Jul 20. doi: 10.1038/s41439-018-0019-5
PMCID:
PMC6054605
AbstractArticlePDF–992K
4.
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
AbstractArticlePDF–1.9M
5.
Opposing effects on NaV1.2 function underlie differences between SCN2A variants observed in individuals with autism spectrum disorder or infantile seizures
Roy Ben-Shalom, Caroline M. Keeshen, Kiara N. Berrios, Joon Y. An, Stephan J. Sanders, Kevin J. Bender
Biol Psychiatry. Author manuscript; available in PMC 2018 Aug 1.
Published in final edited form as: Biol Psychiatry. 2017 Aug 1; 82(3): 224–232. Published online 2017 Jan 27. doi: 10.1016/j.biopsych.2017.01.009
PMCID:
PMC5796785
AbstractArticlePDF–1.0M
6.
The tarantula toxin β/δ-TRTX-Pre1a highlights the importance of the S1-S2 voltage-sensor region for sodium channel subtype selectivity
Joshua S. Wingerd, Christine A. Mozar, Christine A. Ussing, Swetha S. Murali, Yanni K.-Y. Chin, Ben Cristofori-Armstrong, Thomas Durek, John Gilchrist, Christopher W. Vaughan, Frank Bosmans, David J. Adams, Richard J. Lewis, Paul F. Alewood, Mehdi Mobli, Macdonald J. Christie, Lachlan D. Rash
Sci Rep. 2017; 7: 974. Published online 2017 Apr 20. doi: 10.1038/s41598-017-01129-0
PMCID:
PMC5430537
AbstractArticlePDF–7.9M
7.
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
AbstractArticlePDF–443K
8.
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
AbstractArticlePDF–341K
9.
Targeted DNA sequencing from autism spectrum disorder brains implicates multiple genetic mechanisms
Alissa Maria D’Gama, Sirisha Pochareddy, Mingfeng Li, Saumya Shekhar Jamuar, Rachel Elizabeth Reiff, Anh-Thu Ngoc Lam, Nenad Sestan, Christopher A Walsh
Neuron. Author manuscript; available in PMC 2016 Dec 2.
Published in final edited form as: Neuron. 2015 Dec 2; 88(5): 910–917. doi: 10.1016/j.neuron.2015.11.009
PMCID:
PMC4672379
AbstractArticlePDF–535K
10.
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
AbstractArticlePDF–832K
11.
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders
Marta Codina-Solà, Benjamín Rodríguez-Santiago, Aïda Homs, Javier Santoyo, Maria Rigau, Gemma Aznar-Laín, Miguel del Campo, Blanca Gener, Elisabeth Gabau, María Pilar Botella, Armand Gutiérrez-Arumí, Guillermo Antiñolo, Luis Alberto Pérez-Jurado, Ivon Cuscó
Mol Autism. 2015; 6: 21. Published online 2015 Apr 15. doi: 10.1186/s13229-015-0017-0
PMCID:
PMC4427998
AbstractArticlePDF–1.4M
12.
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
Hilary C. Martin, Grace E. Kim, Alistair T. Pagnamenta, Yoshiko Murakami, Gemma L. Carvill, Esther Meyer, Richard R. Copley, Andrew Rimmer, Giulia Barcia, Matthew R. Fleming, Jack Kronengold, Maile R. Brown, Karl A. Hudspith, John Broxholme, Alexander Kanapin, Jean-Baptiste Cazier, Taroh Kinoshita, Rima Nabbout, The WGS500 Consortium, David Bentley, Gil McVean, Sinéad Heavin, Zenobia Zaiwalla, Tony McShane, Heather C. Mefford, Deborah Shears, Helen Stewart, Manju A. Kurian, Ingrid E. Scheffer, Edward Blair, Peter Donnelly, Leonard K. Kaczmarek, Jenny C. Taylor
Hum Mol Genet. 2014 Jun 15; 23(12): 3200–3211. Published online 2014 Jan 25. doi: 10.1093/hmg/ddu030
PMCID:
PMC4030775
AbstractArticlePDF–626K
13.
A disulfide tether stabilizes the block of sodium channels by the conotoxin μO§-GVIIJ
Joanna Gajewiak, Layla Azam, Julita Imperial, Aleksandra Walewska, Brad R. Green, Pradip K. Bandyopadhyay, Shrinivasan Raghuraman, Beatrix Ueberheide, Marshall Bern, H. Mimi Zhou, Natali A. Minassian, Rebecca H. Hagan, Mack Flinspach, Yi Liu, Grzegorz Bulaj, Alan D. Wickenden, Baldomero M. Olivera, Doju Yoshikami, Min-Min Zhang
Proc Natl Acad Sci U S A. 2014 Feb 18; 111(7): 2758–2763. Published online 2014 Feb 4. doi: 10.1073/pnas.1324189111
PMCID:
PMC3932919
AbstractArticlePDF–1.0M
14.
Crystallographic insights into sodium-channel modulation by the β4 subunit
John Gilchrist, Samir Das, Filip Van Petegem, Frank Bosmans
Proc Natl Acad Sci U S A. 2013 Dec 17; 110(51): E5016–E5024. Published online 2013 Dec 2. doi: 10.1073/pnas.1314557110
PMCID:
PMC3870679
AbstractArticlePDF–1.4M
15.
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
AbstractArticlePDF–380K
16.
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle, Jacinta M. McMahon, Brian J. O’Roak, Joseph Cook, Adiba Khan, Michael O Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoffrey Wallace, Thorsten Stanley, Ann M. E. Bye, Andrew Bleasel, Katherine B. Howell, Sara Kivity, Mark T. Mackay, Victoria Rodriguez-Casero, Richard Webster, Amos Korczyn, Zaid Afawi, Nathanel Zelnick, Tally Lerman-Sagie, Dorit Lev, Rikke S. Møller, Deepak Gill, Danielle M. Andrade, Jeremy L. Freeman, Lynette G. Sadleir, Jay Shendure, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford
Nat Genet. Author manuscript; available in PMC 2014 Jan 1.
Published in final edited form as: Nat Genet. 2013 Jul; 45(7): 825–830. Published online 2013 May 26. doi: 10.1038/ng.2646
PMCID:
PMC3704157
ArticlePDF–667K
17.
Impaired NaV1.2 Function and Reduced Cell Surface Expression in Benign Familial Neonatal-Infantile Seizures
Sunita N. Misra, Kristopher M. Kahlig, Alfred L. George, Jr.
Epilepsia. Author manuscript; available in PMC 2013 May 8.
Published in final edited form as: Epilepsia. 2008 Sep; 49(9): 1535–1545. Published online 2008 Apr 21. doi: 10.1111/j.1528-1167.2008.01619.x
PMCID:
PMC3647030
AbstractArticlePDF–1.8M
18.
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara Syndrome and unique neuropathological findings
Marlin Touma, Mugdha Joshi, Meghan C. Connolly, P. Ellen Grant, Anne R. Hansen, Omar Khwaja, Gerard T. Berry, Hannah C. Kinney, Annapurna Poduri, Pankaj B. Agrawal
Epilepsia. Author manuscript; available in PMC 2014 May 1.
Published in final edited form as: Epilepsia. 2013 May; 54(5): e81–e85. Published online 2013 Mar 28. doi: 10.1111/epi.12137
PMCID:
PMC3640694
AbstractArticlePDF–2.8M
19.
De novo mutations of voltage-gated sodium channel αII gene SCN2A in intractable epilepsies
I Ogiwara, K Ito, Y Sawaishi, H Osaka, E Mazaki, I Inoue, M Montal, T Hashikawa, T Shike, T Fujiwara, Y Inoue, M Kaneda, K Yamakawa
Neurology. 2009 Sep 29; 73(13): 1046–1053. doi: 10.1212/WNL.0b013e3181b9cebc
PMCID:
PMC2754324
AbstractArticlePDF–1.2M
20.
Direct amplification of a single dissected chromosomal segment by polymerase chain reaction: a human brain sodium channel gene is on chromosome 2q22-q23.
J A Han, C M Lu, G B Brown, T A Rado
Proc Natl Acad Sci U S A. 1991 Jan 15; 88(2): 335–339. doi: 10.1073/pnas.88.2.335
PMCID:
PMC50805
SummaryPage BrowsePDF–1.2M

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