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Items: 5

1.
De novo mutations revealed by whole exome sequencing are strongly associated with autism
Stephan J. Sanders, Michael T. Murtha, Abha R. Gupta, John D. Murdoch, Melanie J. Raubeson, A. Jeremy Willsey, A. Gulhan Ercan-Sencicek, Nicholas M. DiLullo, Neelroop N. Parikshak, Jason L. Stein, Michael F. Walker, Gordon T. Ober, Nicole A. Teran, Youeun Song, Paul El-Fishawy, Ryan C. Murtha, Murim Choi, John D. Overton, Robert D. Bjornson, Nicholas J. Carriero, Kyle A. Meyer, Kaya Bilguvar, Shrikant M. Mane, Nenad Šestan, Richard P. Lifton, Murat Günel, Kathryn Roeder, Daniel H. Geschwind, Bernie Devlin, Matthew W. State
Nature. Author manuscript; available in PMC 2013 May 30.
Published in final edited form as: Nature. 2012 Apr 4; 485(7397): 237–241. Published online 2012 Apr 4. doi: 10.1038/nature10945
PMCID:
PMC3667984
AbstractArticlePDF–470K
2.
Characterization of 5′ untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences
Melinda S. Martin, Bin Tang, Nga Ta, Andrew Escayg
Genomics. Author manuscript; available in PMC 2009 Feb 9.
Published in final edited form as: Genomics. 2007 Aug; 90(2): 225–235. Published online 2007 Jun 4. doi: 10.1016/j.ygeno.2007.04.006
PMCID:
PMC2637551
AbstractArticlePDF–254K
3.
Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain.
C M Ahmed, D H Ware, S C Lee, C D Patten, A V Ferrer-Montiel, A F Schinder, J D McPherson, C B Wagner-McPherson, J J Wasmuth, G A Evans, et al.
Proc Natl Acad Sci U S A. 1992 Sep 1; 89(17): 8220–8224. doi: 10.1073/pnas.89.17.8220
PMCID:
PMC49889
SummaryPage BrowsePDF–1.2M
4.
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
AbstractArticlePDF–2.3M
5.
Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy
Anna Ka-Yee Kwong, Alvin Chi-Chung Ho, Cheuk-Wing Fung, Virginia Chun-Nei Wong
PLoS One. 2015; 10(5): e0126446. Published online 2015 May 7. doi: 10.1371/journal.pone.0126446
PMCID:
PMC4423861
AbstractArticlePDF–662K

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