PMC Links for Books (Select 4326154) - PMC

Select item 45937501.

Cognition and Brain Development in Children with Benign Epilepsy with Centrotemporal Spikes (BECTS)

Camille Garcia-Ramos, Daren C. Jackson, Jack J. Lin, Kevin Dabbs, Jana Jones, David A. Hsu, Carl E. Stafstrom, Lucy Zawadzki, Michael Seidenberg, Vivek Prabhakaran, Bruce P. Hermann

Epilepsia. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Epilepsia. 2015 Oct; 56(10): 1615–1622. Published online 2015 Sep 4. doi: 10.1111/epi.13125

PMCID:: PMC4593750

Abstract Article PDF–740K

Select item 43359912.

GRIN2A: An aptly named gene for speech dysfunction

Samantha J. Turner, Angela K. Mayes, Andrea Verhoeven, Simone A. Mandelstam, Angela T. Morgan, Ingrid E. Scheffer

Neurology. 2015 Feb 10; 84(6): 586–593. doi: 10.1212/WNL.0000000000001228

PMCID:: PMC4335991

Abstract Article PDF–312K

Select item 40194493.

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

Tyler Mark Pierson, Hongjie Yuan, Eric D Marsh, Karin Fuentes-Fajardo, David R Adams, Thomas Markello, Gretchen Golas, Dimitre R Simeonov, Conisha Holloman, Anel Tankovic, Manish M Karamchandani, John M Schreiber, James C Mullikin, Cynthia J Tifft, Camilo Toro, Cornelius F Boerkoel, Stephen F Traynelis, William A Gahl

Ann Clin Transl Neurol. 2014 Mar; 1(3): 190–198. Published online 2014 Mar 3. doi: 10.1002/acn3.39

PMCID:: PMC4019449

Abstract Article PDF–453K

Select item 39347974.

Functional Analysis of a De Novo GRIN2A Missense Mutation Associated with Early-onset Epileptic Encephalopathy

Hongjie Yuan, Kasper B. Hansen, Jing Zhang, Tyler Mark Pierson, Thomas C. Markello, Karin V. Fuentes Fajardo, Conisha M. Holloman, Gretchen Golas, David R. Adams, Cornelius F. Boerkoel, William A. Gahl, Stephen F. Traynelis

Nat Commun. Author manuscript; available in PMC 2014 Aug 7.

Published in final edited form as: Nat Commun. 2014; 5: 3251. doi: 10.1038/ncomms4251

PMCID:: PMC3934797

Abstract Article PDF–1.5M

Select item 38689525.

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Gemma L Carvill, Brigid M Regan, Simone C Yendle, Brian J O’Roak, Natalia Lozovaya, Nadine Bruneau, Nail Burnashev, Adiba Khan, Joseph Cook, Eileen Geraghty, Lynette G Sadleir, Samantha J Turner, Meng-Han Tsai, Richard Webster, Robert Ouvrier, John A Damiano, Samuel F Berkovic, Jay Shendure, Michael S Hildebrand, Pierre Szepetowski, Ingrid E Scheffer, Heather C Mefford

Nat Genet. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Nat Genet. 2013 Sep; 45(9): 1073–1076. Published online 2013 Aug 11. doi: 10.1038/ng.2727

PMCID:: PMC3868952

Article PDF–645K

Select item 38512806.

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech

Elizabeth A Worthey, Gordana Raca, Jennifer J Laffin, Brandon M Wilk, Jeremy M Harris, Kathy J Jakielski, David P Dimmock, Edythe A Strand, Lawrence D Shriberg

J Neurodev Disord. 2013; 5(1): 29. Published online 2013 Oct 2. doi: 10.1186/1866-1955-5-29

PMCID:: PMC3851280

Abstract Article PDF–321K

Select item 37651977.

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Dennis Lal, Eva M. Reinthaler, Janine Altmüller, Mohammad R. Toliat, Holger Thiele, Peter Nürnberg, Holger Lerche, Andreas Hahn, Rikke S. Møller, Hiltrud Muhle, Thomas Sander, Fritz Zimprich, Bernd A. Neubauer

PLoS One. 2013; 8(9): e73323. Published online 2013 Sep 6. doi: 10.1371/journal.pone.0073323

Correction in:: PLoS One. 2013; 8(10): 10.1371/annotation/f6aed47b-9135-45f5-bfdd-f4ceb33c8561.

PMCID:: PMC3765197

Abstract Article PDF–486K

Select item 30873838.

mGluR5 and NMDA Receptors Drive the Experience- and Activity-Dependent NMDA Receptor NR2B to NR2A Subunit Switch

Jose A. Matta, Michael C. Ashby, Antonio Sanz-Clemente, Katherine W. Roche, John T. R. Isaac

Neuron. Author manuscript; available in PMC 2012 Apr 28.

Published in final edited form as: Neuron. 2011 Apr 28; 70(2): 339–351. doi: 10.1016/j.neuron.2011.02.045

PMCID:: PMC3087383

Abstract Article PDF–2.2M

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