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Select item 104499701.

A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia

Tiina Heinonen, Thomas Flegel, Hanna Müller, Alexandra Kehl, Sruthi Hundi, Kaspar Matiasek, Andrea Fischer, Jonas Donner, Oliver P. Forman, Hannes Lohi, Marjo K. Hytönen

Hum Genet. 2023; 142(8): 1221–1230. Published online 2023 May 24. doi: 10.1007/s00439-023-02571-z

PMCID:: PMC10449970

Abstract Article PDF–1.4M

Select item 100331642.

Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy

Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J. Huang, Tiziana Granata, Pasquale Striano, Berten Ceulemans, Anja Stein, Deborah Morris-Rosendahl, Greta Conti, Nipa Mitra, F. Lucy Raymond, David H. Rowitch, Roberta Solazzi, Fabiana Vercellino, Paola De Liso, Gianluca D'Onofrio, Clementina Boniver, Olivier Danhaive, Katherine Carkeek, Vincenzo Salpietro, Sarah Weckhuysen, Marny Fedrigo, Annalisa Angelini, Barbara Castellotti, Damien Lederer, Valerie Benoit, Federico Raviglione, Renzo Guerrini, Robertino Dilena, Maria Roberta Cilio

Neurology. 2023 Mar 21; 100(12): e1234–e1247. doi: 10.1212/WNL.0000000000206755

PMCID:: PMC10033164

Abstract Article PDF–889K

Select item 92410323.

Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome

Ghada I. Aboheimed, Maha M. AlRasheed, Sultan Almudimeegh, Karla A. Peña-Guerra, Kelly J. Cardona-Londoño, Mustafa A. Salih, Mohammed Z. Seidahmed, Futwan Al-Mohanna, Dilek Colak, Robert J. Harvey, Kirsten Harvey, Stefan T. Arold, Namik Kaya, Arnaud J. Ruiz

J Biol Chem. 2022 Jul; 298(7): 102018. Published online 2022 May 6. doi: 10.1016/j.jbc.2022.102018

PMCID:: PMC9241032

Abstract Article PDF–2.0M

Select item 91902904.

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 85237465.

The presynaptic glycine transporter GlyT2 is regulated by the Hedgehog pathway in vitro and in vivo

Andrés de la Rocha-Muñoz, Enrique Núñez, Anjali Amrapali Vishwanath, Sergio Gómez-López, Dhanasak Dhanasobhon, Nelson Rebola, Beatriz López-Corcuera, Jaime de Juan-Sanz, Carmen Aragón

Commun Biol. 2021; 4: 1197. Published online 2021 Oct 18. doi: 10.1038/s42003-021-02718-6

PMCID:: PMC8523746

Abstract Article PDF–865K

Select item 80203446.

A proline-rich motif in the large intracellular loop of the glycine receptor α1 subunit interacts with the Pleckstrin homology domain of collybistin

Ulrike Breitinger, Kristina Weinländer, Yvonne Pechmann, Georg Langlhofer, Ralf Enz, Cord-Michael Becker, Heinrich Sticht, Matthias Kneussel, Carmen Villmann, Hans-Georg Breitinger

J Adv Res. 2021 Mar; 29: 95–106. Published online 2020 Oct 8. doi: 10.1016/j.jare.2020.09.009

PMCID:: PMC8020344

Abstract Article PDF–1.6M

Select item 78774717.

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 77742288.

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 77603159.

A System for Assessing Dual Action Modulators of Glycine Transporters and Glycine Receptors

Diba Sheipouri, Casey I. Gallagher, Susan Shimmon, Tristan Rawling, Robert J. Vandenberg

Biomolecules. 2020 Dec; 10(12): 1618. Published online 2020 Nov 30. doi: 10.3390/biom10121618

PMCID:: PMC7760315

Abstract Article PDF–4.2M

Select item 774530910.

Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in GLRB gene

Naveen Parkash Gupta, Vinita Verma, Saurabh Chopra, Vivek Choudhury

BMJ Case Rep. 2020; 13(12): e236152. Published online 2020 Dec 15. doi: 10.1136/bcr-2020-236152

PMCID:: PMC7745309

Abstract Article PDF–1.3M

Select item 764974711.

The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents

Zhiyi Wu, Remigijus Lape, Lea Jopp‐Saile, Benjamin J. O'Callaghan, Timo Greiner, Lucia G. Sivilotti

J Physiol. 2020 Aug 15; 598(16): 3417–3438. Published online 2020 Jun 18. doi: 10.1113/JP279803

PMCID:: PMC7649747

Abstract Article PDF–3.0M

Select item 732635712.

A Novel Glycine Receptor Variant with Startle Disease Affects Syndapin I and Glycinergic Inhibition

Georg Langlhofer, Natascha Schaefer, Hans M. Maric, Angelo Keramidas, Yan Zhang, Peter Baumann, Robert Blum, Ulrike Breitinger, Kristian Strømgaard, Andreas Schlosser, Michael M. Kessels, Dennis Koch, Britta Qualmann, Hans-Georg Breitinger, Joseph W. Lynch, Carmen Villmann

J Neurosci. 2020 Jun 17; 40(25): 4954–4969. doi: 10.1523/JNEUROSCI.2490-19.2020

PMCID:: PMC7326357

Abstract Article PDF–3.2M

Select item 722078713.

C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report

Yan Zhang, Ling-Ling Wu, Xiao-Lan Zheng, Cai-Mei Lin

Medicine (Baltimore) 2020 Apr; 99(17): e19968. Published online 2020 Apr 24. doi: 10.1097/MD.0000000000019968

PMCID:: PMC7220787

Abstract Article PDF–329K

Select item 695259914.

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 691315115.

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 689984816.

Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force

Sterre van der Veen, Rodi Zutt, Christine Klein, Connie Marras, Samuel F. Berkovic, John N. Caviness, Hiroshi Shibasaki, Tom J. de Koning, Marina A.J. Tijssen

Mov Disord. 2019 Nov; 34(11): 1602–1613. Published online 2019 Oct 4. doi: 10.1002/mds.27828

PMCID:: PMC6899848

Abstract Article PDF–256K

Select item 679625117.

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 678214918.

Novel GLRA1 Missense Mutation (P250T) in Dominant Hyperekplexia Defines an Intracellular Determinant of Glycine Receptor Channel Gating

Brigitta Saul, Thomas Kuner, Diana Sobetzko, Wolfram Brune, Folker Hanefeld, Hans-Michael Meinck, Cord-Michael Becker

J Neurosci. 1999 Feb 1; 19(3): 869–877. doi: 10.1523/JNEUROSCI.19-03-00869.1999

PMCID:: PMC6782149

Abstract Article PDF–246K

Select item 676462119.

Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder

Régis Lopez, François Rivier, Jamel Chelly, Yves Dauvilliers

Ann Clin Transl Neurol. 2019 Sep; 6(9): 1900–1904. Published online 2019 Aug 7. doi: 10.1002/acn3.50866

PMCID:: PMC6764621

Abstract Article PDF–1000K

Select item 674050220.

Glycine Receptor Knock-In Mice and Hyperekplexia-Like Phenotypes: Comparisons with the Null Mutant

Geoffrey S. Findlay, Rachel Phelan, Michael T. Roberts, Gregg E. Homanics, Susan E. Bergeson, Gregory F. Lopreato, S. John Mihic, Yuri A. Blednov, R. Adron Harris

J Neurosci. 2003 Sep 3; 23(22): 8051–8059. doi: 10.1523/JNEUROSCI.23-22-08051.2003

PMCID:: PMC6740502

Abstract Article PDF–520K

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