PMC Links for Books (Select 1458978) - PMC

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 65736114.

Mutation Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Alters Ca²⁺ Permeability, Conductance, and Gating of Human α4β2 Nicotinic Acetylcholine Receptors

Alexander Kuryatov, Volodymyr Gerzanich, Mark Nelson, Felix Olale, Jon Lindstrom

J Neurosci. 1997 Dec 1; 17(23): 9035–9047. doi: 10.1523/JNEUROSCI.17-23-09035.1997

PMCID:: PMC6573611

Abstract Article PDF–345K

Select item 62924955.

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari, Fabienne Picard, Nienke E. Verbeek, Marjan van Kempen, Eva H. Brilstra, Gaetan Lesca, Valerio Conti, Renzo Guerrini, Francesca Bisulli, Laura Licchetta, Tommaso Pippucci, Paolo Tinuper, Edouard Hirsch, Anne de Saint Martin, Jamel Chelly, Gabrielle Rudolf, Mathilde Chipaux, Sarah Ferrand-Sorbets, Georg Dorfmüller, Sanjay Sisodiya, Simona Balestrini, Natasha Schoeler, Laura Hernandez-Hernandez, S. Krithika, Renske Oegema, Eveline Hagebeuk, Boudewijn Gunning, Charles Deckers, Bianca Berghuis, Ilse Wegner, Erik Niks, Floor E. Jansen, Kees Braun, Daniëlle de Jong, Guido Rubboli, Inga Talvik, Valentin Sander, Peter Uldall, Marie-Line Jacquemont, Caroline Nava, Eric Leguern, Sophie Julia, Antonio Gambardella, Giuseppe d’Orsi, Giovanni Crichiutti, Laurence Faivre, Veronique Darmency, Barbora Benova, Pavel Krsek, Arnaud Biraben, Anne-Sophie Lebre, Mélanie Jennesson, Shifteh Sattar, Cécile Marchal, Douglas R Nordli, Jr, Kristin Lindstrom, Pasquale Striano, Lysa Boissé Lomax, Courtney Kiss, Fabrice Bartolomei, Anne Fabienne Lepine, An-Sofie Schoonjans, Katrien Stouffs, Anna Jansen, Eleni Panagiotakaki, Brigitte Ricard-Mousnier, Julien Thevenon, Julitta de Bellescize, Hélène Catenoix, Thomas Dorn, Martin Zenker, Karen Müller-Schlüter, Christian Brandt, Ilona Krey, Tilman Polster, Markus Wolff, Meral Balci, Kevin Rostasy, Guillaume Achaz, Pia Zacher, Thomas Becher, Thomas Cloppenborg, Christopher J. Yuskaitis, Sarah Weckhuysen, Annapurna Poduri, Johannes R. Lemke, Rikke S. Møller, Stéphanie Baulac

Genet Med. 2019; 21(2): 398–408. Published online 2018 Aug 10. doi: 10.1038/s41436-018-0060-2

Correction in:: Genet Med. 2019; 21(7): 1671.

Correction in:: Genet Med. 2019; 21(8): 1896.

PMCID:: PMC6292495

Abstract Article PDF–1.4M

Select item 56680106.

Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca²⁺-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy

Zhi-Hong Chen, Chun Wang, Mu-Qing Zhuo, Qiong-Xiang Zhai, Qian Chen, Yu-Xiong Guo, Yu-Xin Zhang, Juan Gui, Zhi-Hong Tang, Xiao-Lu Zeng

Oncotarget. 2017 Oct 3; 8(45): 78940–78947. Published online 2017 Sep 5. doi: 10.18632/oncotarget.20694

PMCID:: PMC5668010

Abstract Article PDF–2.4M

Select item 52008527.

Laura Licchetta, Francesca Bisulli, Luca Vignatelli, Corrado Zenesini, Lidia Di Vito, Barbara Mostacci, Claudia Rinaldi, Irene Trippi, Ilaria Naldi, Giuseppe Plazzi, Federica Provini, Paolo Tinuper

Neurology. 2017 Jan 3; 88(1): 70–77. doi: 10.1212/WNL.0000000000003459

PMCID:: PMC5200852

Abstract Article PDF–448K

Select item 48622488.

Definition and diagnostic criteria of sleep-related hypermotor epilepsy

Paolo Tinuper, Francesca Bisulli, J.H. Cross, Dale Hesdorffer, Philippe Kahane, Lino Nobili, Federica Provini, Ingrid E. Scheffer, Laura Tassi, Luca Vignatelli, Claudio Bassetti, Fabio Cirignotta, Christopher Derry, Antonio Gambardella, Renzo Guerrini, Peter Halasz, Laura Licchetta, Mark Mahowald, Raffaele Manni, Carla Marini, Barbara Mostacci, Ilaria Naldi, Liborio Parrino, Fabienne Picard, Maura Pugliatti, Philippe Ryvlin, Federico Vigevano, Marco Zucconi, Samuel Berkovic, Ruth Ottman

Neurology. 2016 May 10; 86(19): 1834–1842. doi: 10.1212/WNL.0000000000002666

PMCID:: PMC4862248

Abstract Article PDF–275K

Select item 47713979.

Medical management of epileptic seizures: challenges and solutions

Anand K Sarma, Nabil Khandker, Lisa Kurczewski, Gretchen M Brophy

Neuropsychiatr Dis Treat. 2016; 12: 467–485. Published online 2016 Feb 24. doi: 10.2147/NDT.S80586

PMCID:: PMC4771397

Abstract Article PDF–504K

Select item 473192510.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 455444311.

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

Michael S Hildebrand, Rick Tankard, Elena V Gazina, John A Damiano, Kate M Lawrence, Hans-Henrik M Dahl, Brigid M Regan, Aiden Eliot Shearer, Richard J H Smith, Carla Marini, Renzo Guerrini, Angelo Labate, Antonio Gambardella, Paolo Tinuper, Laura Lichetta, Sara Baldassari, Francesca Bisulli, Tommaso Pippucci, Ingrid E Scheffer, Christopher A Reid, Steven Petrou, Melanie Bahlo, Samuel F Berkovic

Ann Clin Transl Neurol. 2015 Aug; 2(8): 821–830. Published online 2015 Jul 3. doi: 10.1002/acn3.224

PMCID:: PMC4554443

Abstract Article PDF–363K

Select item 454475312.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 440828613.

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function

Valerio Conti, Patrizia Aracri, Laura Chiti, Simone Brusco, Francesco Mari, Carla Marini, Maria Albanese, Angela Marchi, Claudio Liguori, Fabio Placidi, Andrea Romigi, Andrea Becchetti, Renzo Guerrini

Neurology. 2015 Apr 14; 84(15): 1520–1528. doi: 10.1212/WNL.0000000000001471

PMCID:: PMC4408286

Abstract Article PDF–1.0M

Select item 393856414.

Syntaxin 1B, but Not Syntaxin 1A, Is Necessary for the Regulation of Synaptic Vesicle Exocytosis and of the Readily Releasable Pool at Central Synapses

Tatsuya Mishima, Tomonori Fujiwara, Masumi Sanada, Takefumi Kofuji, Masami Kanai-Azuma, Kimio Akagawa

PLoS One. 2014; 9(2): e90004. Published online 2014 Feb 28. doi: 10.1371/journal.pone.0090004

PMCID:: PMC3938564

Abstract Article PDF–1.0M

Select item 372865415.

A tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1

Liron Bar-Peled, Lynne Chantranupong, Andrew D. Cherniack, Walter W. Chen, Kathleen A. Ottina, Brian C. Grabiner, Eric D. Spear, Scott L. Carter, Matthew Meyerson, David M. Sabatini

Science. Author manuscript; available in PMC 2013 Jul 31.

Published in final edited form as: Science. 2013 May 31; 340(6136): 1100–1106. doi: 10.1126/science.1232044

PMCID:: PMC3728654

Abstract Article PDF–2.5M

Select item 362386116.

Functional Characterization of a CRH Missense Mutation Identified in an ADNFLE Family

Veronica Sansoni, Matilde Forcella, Alessandra Mozzi, Paola Fusi, Roberto Ambrosini, Luigi Ferini-Strambi, Romina Combi

PLoS One. 2013; 8(4): e61306. Published online 2013 Apr 11. doi: 10.1371/journal.pone.0061306

PMCID:: PMC3623861

Abstract Article PDF–493K

Select item 289325217.

Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack

Maile R. Brown, Jack Kronengold, Valeswara-Rao Gazula, Yi Chen, John G. Strumbos, Fred J. Sigworth, Dhasakumar Navaratnam, Leonard K. Kaczmarek

Nat Neurosci. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: Nat Neurosci. 2010 Jul; 13(7): 819–821. Published online 2010 May 30. doi: 10.1038/nn.2563

PMCID:: PMC2893252

Abstract Article PDF–840K

Select item 223132618.

Two mutations linked to nocturnal frontal lobe epilepsy cause use-dependent potentiation of the nicotinic ACh response

Antonio Figl, Nareerat Viseshakul, Navid Shafaee, John Forsayeth, Bruce N Cohen

J Physiol. 1998 Dec 15; 513(Pt 3): 655–670. doi: 10.1111/j.1469-7793.1998.655ba.x

PMCID:: PMC2231326

Abstract Article PDF–747K

Select item 157100619.

Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

S Bertrand, S Weiland, S F Berkovic, O K Steinlein, D Bertrand

Br J Pharmacol. 1998 Oct; 125(4): 751–760. doi: 10.1038/sj.bjp.0702154

PMCID:: PMC1571006

Summary PDF–369K

Select item 155950220.

Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear

Paolo Aridon, Carla Marini, Chiara Di Resta, Elisa Brilli, Maurizio De Fusco, Fausta Politi, Elena Parrini, Irene Manfredi, Tiziana Pisano, Dario Pruna, Giulia Curia, Carlo Cianchetti, Massimo Pasqualetti, Andrea Becchetti, Renzo Guerrini, Giorgio Casari

Am J Hum Genet. 2006 Aug; 79(2): 342–350. Published online 2006 Jun 26. doi: 10.1086/506459

PMCID:: PMC1559502

Abstract Article PDF–1.3M

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