PMC Links for Protein (Select 1697699207) - PMC

Select item 67089051.

Comparison of oxcarbazepine efficacy and MHD concentrations relative to age and BMI: Associations among ABCB1, ABCC2, UGT2B7, and SCN2A polymorphisms

Xue Yang, Yuanliang Yan, Shu Fang, Shuangshuang Zeng, Hongying Ma, Long Qian, Xi Chen, Jie Wei, Zhicheng Gong, Zhijie Xu

Medicine (Baltimore) 2019 Mar; 98(12): e14908. Published online 2019 Mar 22. doi: 10.1097/MD.0000000000014908

PMCID:: PMC6708905

Abstract Article PDF–641K

Select item 67069172.

Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series

Maryem Sahli, Abdelali Zrhidri, Siham Chafai Elaloui, Wiam Smaili, Jaber Lyahyai, Fatima Zohra Oudghiri, Abdelaziz Sefiani

J Med Case Rep. 2019; 13: 266. Published online 2019 Aug 23. doi: 10.1186/s13256-019-2203-8

PMCID:: PMC6706917

Abstract Article PDF–521K

Select item 36679843.

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

Abstract Article PDF–470K

Select item 26375514.

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

Abstract Article PDF–254K

Select item 508055.

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

Summary Page Browse PDF–1.2M

Select item 498896.

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

Summary Page Browse PDF–1.2M

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