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Select item 91902901.

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus

Juliette Piard, Matthieu Béreau, Wenshu XiangWei, Thomas Wirth, Daniel Amsallem, Lauren Buisson, Philippe Richard, Nana Liu, Yuchen Xu, Scott J. Myers, Stephen F. Traynelis, Jameleddine Chelly, Mathieu Anheim, Martine Raynaud, Lionel Van Maldergem, Hongjie Yuan

Mov Disord. Author manuscript; available in PMC 2022 Jun 13.

Published in final edited form as: Mov Disord. 2020 Jul; 35(7): 1224–1232. Published online 2020 May 5. doi: 10.1002/mds.28058

PMCID:: PMC9190290

Abstract Article PDF–822K

Select item 78774712.

Subunit-Specific Photocontrol of Glycine Receptors by Azobenzene-Nitrazepam Photoswitcher

Galyna Maleeva, Alba Nin-Hill, Karin Rustler, Elena Petukhova, Daria Ponomareva, Elvira Mukhametova, Alexandre MJ Gomila, Daniel Wutz, Mercedes Alfonso-Prieto, Burkhard König, Pau Gorostiza, Piotr Bregestovski

eNeuro. 2021 Jan-Feb; 8(1): ENEURO.0294-20.2020. Prepublished online 2020 Dec 9. Published online 2021 Jan 15. doi: 10.1523/ENEURO.0294-20.2020

PMCID:: PMC7877471

Abstract Article PDF–2.9M

Select item 77742283.

Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation

Agnes Selina, Deepa John, Lakshmi Loganathan, Vrisha Madhuri

Indian J Ophthalmol. 2020 Nov; 68(11): 2545–2547. Published online 2020 Oct 26. doi: 10.4103/ijo.IJO_325_20

PMCID:: PMC7774228

Abstract Article PDF–1.2M

Select item 69525994.

The synthetic cannabinoid dehydroxylcannabidiol restores the function of a major GABA_A receptor isoform in a cell model of hyperekplexia

Guichang Zou, Jing Xia, Qianqian Han, Dan Liu, Wei Xiong

J Biol Chem. 2020 Jan 3; 295(1): 138–145. Published online 2019 Nov 22. doi: 10.1074/jbc.RA119.011221

PMCID:: PMC6952599

Abstract Article PDF–1.8M

Select item 69131515.

Novel mutations in SLC6A5 with benign course in hyperekplexia

Hormos Salimi Dafsari, Amit Kawalia, Rosanne Sprute, Mert Karakaya, Anna Malenica, Peter Herkenrath, Peter Nürnberg, Susanne Motameny, Holger Thiele, Sebahattin Cirak

Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004465. doi: 10.1101/mcs.a004465

PMCID:: PMC6913151

Abstract Article PDF–5.0M

Select item 67962516.

The α1K276E Startle Disease Mutation Reveals Multiple Intermediate States in the Gating of Glycine Receptors

Remigijus Lape, Andrew J. R. Plested, Mirko Moroni, David Colquhoun, Lucia G. Sivilotti

J Neurosci. 2012 Jan 25; 32(4): 1336–1352. doi: 10.1523/JNEUROSCI.4346-11.2012

PMCID:: PMC6796251

Abstract Article PDF–3.4M

Select item 67292147.

The GDP-GTP Exchange Factor Collybistin: An Essential Determinant of Neuronal Gephyrin Clustering

Kirsten Harvey, Ian C. Duguid, Melissa J. Alldred, Sarah E. Beatty, Hamish Ward, Nicholas H. Keep, Sue E. Lingenfelter, Brian R. Pearce, Johan Lundgren, Michael J. Owen, Trevor G. Smart, Bernhard Lüscher, Mark I. Rees, Robert J. Harvey

J Neurosci. 2004 Jun 23; 24(25): 5816–5826. doi: 10.1523/JNEUROSCI.1184-04.2004

PMCID:: PMC6729214

Abstract Article PDF–44M

Select item 66324448.

Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

Seo-Kyung Chung, Jean-François Vanbellinghen, Jonathan G. L. Mullins, Angela Robinson, Janina Hantke, Carrie L. Hammond, Daniel F. Gilbert, Michael Freilinger, Monique Ryan, Michael C. Kruer, Amira Masri, Candan Gurses, Colin Ferrie, Kirsten Harvey, Rita Shiang, John Christodoulou, Frederick Andermann, Eva Andermann, Rhys H. Thomas, Robert J. Harvey, Joseph W. Lynch, Mark I. Rees

J Neurosci. 2010 Jul 14; 30(28): 9612–9620. doi: 10.1523/JNEUROSCI.1763-10.2010

PMCID:: PMC6632444

Abstract Article PDF–1.4M

Select item 66185109.

Na⁺/K⁺-ATPase Is a New Interacting Partner for the Neuronal Glycine Transporter GlyT2 That Downregulates Its Expression In Vitro and In Vivo

Jaime de Juan-Sanz, Enrique Núñez, Lucía Villarejo-López, Daniel Pérez-Hernández, Alejo E. Rodriguez-Fraticelli, Beatriz López-Corcuera, Jesús Vázquez, Carmen Aragón

J Neurosci. 2013 Aug 28; 33(35): 14269–14281. doi: 10.1523/JNEUROSCI.1532-13.2013

PMCID:: PMC6618510

Abstract Article PDF–3.4M

Select item 631252910.

The postnatal development of ultrasonic vocalization‐associated breathing is altered in glycine transporter 2‐deficient mice

Swen Hülsmann, Yoshihiko Oke, Guillaume Mesuret, A. Tobias Latal, Michal G. Fortuna, Marcus Niebert, Johannes Hirrlinger, Julia Fischer, Kurt Hammerschmidt

J Physiol. 2019 Jan 1; 597(1): 173–191. Published online 2018 Nov 20. doi: 10.1113/JP276976

PMCID:: PMC6312529

Abstract Article PDF–1.6M

Select item 585266011.

A Missense Mutation A384P Associated with Human Hyperekplexia Reveals a Desensitization Site of Glycine Receptors

Chen-Hung Wang, Ciria C. Hernandez, Junyi Wu, Ning Zhou, Hsin-Yu Hsu, Mei-Lin Shen, Yi-Ching Wang, Robert L. Macdonald, Dong Chuan Wu

J Neurosci. 2018 Mar 14; 38(11): 2818–2831. doi: 10.1523/JNEUROSCI.0674-16.2018

PMCID:: PMC5852660

Abstract Article PDF–2.8M

Select item 563153312.

A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature

Zhiliang Yang, Guilian Sun, Fang Yao, Dongying Tao, Binlu Zhu

BMC Med Genet. 2017; 18: 110. Published online 2017 Oct 6. doi: 10.1186/s12881-017-0476-6

PMCID:: PMC5631533

Abstract Article PDF–950K

Select item 499103413.

Hülya Maraş-Genç, Emek Uyur-Yalçın, Rasim Özgür Rosti, Joseph G. Gleeson, Bülent Kara

Turk J Pediatr. Author manuscript; available in PMC 2016 Aug 19.

Published in final edited form as: Turk J Pediatr. 2015 May-Jun; 57(3): 286–289.

PMCID:: PMC4991034

Abstract Article PDF–259K

Select item 494727414.

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report

Mohammed Zain Seidahmed, Mustafa A. Salih, Omer B. Abdulbasit, Abdulmohsen Samadi, Khalid Al Hussien, Abeer M. Miqdad, Maha S. Biary, Anas M. Alazami, Ibrahim A. Alorainy, Mohammad M. Kabiraj, Ranad Shaheen, Fowzan S. Alkuraya

BMC Neurol. 2016; 16: 105. Published online 2016 Jul 15. doi: 10.1186/s12883-016-0633-0

PMCID:: PMC4947274

Abstract Article PDF–1.4M

Select item 435277415.

Allosteric and hyperekplexic mutant phenotypes investigated on an α₁ glycine receptor transmembrane structure

Gustavo Moraga-Cid, Ludovic Sauguet, Christèle Huon, Laurie Malherbe, Christine Girard-Blanc, Stéphane Petres, Samuel Murail, Antoine Taly, Marc Baaden, Marc Delarue, Pierre-Jean Corringer

Proc Natl Acad Sci U S A. 2015 Mar 3; 112(9): 2865–2870. Published online 2015 Feb 17. doi: 10.1073/pnas.1417864112

PMCID:: PMC4352774

Abstract Article PDF–1.3M

Select item 430366716.

Molecular Basis of the Dominant Negative Effect of a Glycine Transporter 2 Mutation Associated with Hyperekplexia

Esther Arribas-González, Jaime de Juan-Sanz, Carmen Aragón, Beatriz López-Corcuera

J Biol Chem. 2015 Jan 23; 290(4): 2150–2165. Published online 2014 Dec 5. doi: 10.1074/jbc.M114.587055

PMCID:: PMC4303667

Abstract Article PDF–3.3M

Select item 425636117.

Presynaptic Control of Glycine Transporter 2 (GlyT2) by Physical and Functional Association with Plasma Membrane Ca²⁺-ATPase (PMCA) and Na⁺-Ca²⁺ Exchanger (NCX)

Jaime de Juan-Sanz, Enrique Núñez, Francisco Zafra, María Berrocal, Isaac Corbacho, Ignacio Ibáñez, Esther Arribas-González, Daniel Marcos, Beatriz López-Corcuera, Ana M. Mata, Carmen Aragón

J Biol Chem. 2014 Dec 5; 289(49): 34308–34324. Published online 2014 Oct 14. doi: 10.1074/jbc.M114.586966

PMCID:: PMC4256361

Abstract Article PDF–4.6M

Select item 401996318.

Presynaptic glycine receptors as a potential therapeutic target for hyperekplexia disease

Wei Xiong, Shao-Rui Chen, Liming He, Kejun Cheng, Yi-Lin Zhao, Hong Chen, De-Pei Li, Gregg E. Homanics, John Peever, Kenner C. Rice, Ling-gang Wu, Hui-Lin Pan, Li Zhang

Nat Neurosci. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Nat Neurosci. 2014 Feb; 17(2): 232–239. Published online 2014 Jan 5. doi: 10.1038/nn.3615