PMC Links for Nucleotide (Select 23978417) - PMC

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Items: 4

Select item 64550561.

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome

Marina C. Gonsales, Maria Augusta Montenegro, Paula Preto, Marilisa M. Guerreiro, Ana Carolina Coan, Monica Paiva Quast, Benilton S. Carvalho, Iscia Lopes-Cendes

Front Neurol. 2019; 10: 289. Published online 2019 Mar 28. doi: 10.3389/fneur.2019.00289

PMCID:: PMC6455056

Abstract Article PDF–2.4M

Select item 49614702.

A deleterious Na_v1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

Yishan Sun, Sergiu P Paşca, Thomas Portmann, Carleton Goold, Kathleen A Worringer, Wendy Guan, Karen C Chan, Hui Gai, Daniel Vogt, Ying-Jiun J Chen, Rong Mao, Karrie Chan, John LR Rubenstein, Daniel V Madison, Joachim Hallmayer, Wendy M Froehlich-Santino, Jonathan A Bernstein, Ricardo E Dolmetsch

eLife. 2016; 5: e13073. Published online 2016 Jul 26. doi: 10.7554/eLife.13073

PMCID:: PMC4961470

Abstract Article PDF–2.9M

Select item 37083063.

Novel SCN1A Frameshift Mutation with Absence of Truncated Na_V1.1 Protein in Severe Myoclonic Epilepsy of Infancy

Erin J. McArdle, Jennifer D. Kunic, Alfred L. George, Jr.

Am J Med Genet A. Author manuscript; available in PMC 2013 Jul 11.

Published in final edited form as: Am J Med Genet A. 2008 Sep 15; 0(18): 2421–2423. doi: 10.1002/ajmg.a.32448

PMCID:: PMC3708306

Article PDF–1.2M

Select item 31958414.

Na_v1.1 Dysfunction in Genetic Epilepsy with Febrile Seizures Plus or Dravet Syndrome

Linda Volkers, Kristopher M. Kahlig, Nienke E. Verbeek, Joost H.G. Das, Marjan J.A. van Kempen, Hans Stroink, Paul Augustijn, Onno van Nieuwenhuizen, Dick Lindhout, Alfred L. George, Jr., Bobby P.C. Koeleman, Martin B. Rook

Eur J Neurosci. Author manuscript; available in PMC 2012 Oct 1.

Published in final edited form as: Eur J Neurosci. 2011 Oct; 34(8): 1268–1275. Published online 2011 Aug 22. doi: 10.1111/j.1460-9568.2011.07826.x