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Summary Literature (6)
Literature for DOID 0060695: hyperekplexia


Xenbase Articles :
( Denotes literature images)
Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia., Rea R,Tijssen MA,Herd C,Frants RR,Kullmann DM, Eur J Neurosci. July 1, 2002; 16(2):1460-9568.
Isoform-selective deficit of glycine receptors in the mouse mutant spastic., Becker CM,Schmieden V,Tarroni P,Strasser U,Betz H, Neuron. February 1, 1992; 8(2):0896-6273.
Propofol modulation of α1 glycine receptors does not require a structural transition at adjacent subunits that is crucial to agonist-induced activation., Lynagh T,Kunz A,Laube B, ACS Chem Neurosci. November 20, 2013; 4(11):1948-7193.
The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus., Piard J,Béreau M,XiangWei W,Wirth T,Amsallem D,Buisson L,Richard P,Liu N,Xu Y,Xu Y,Myers SJ,Traynelis SF,Chelly J,Anheim M,Raynaud M,Maldergem LV,Yuan H, Mov Disord. July 1, 2020; 35(7):1531-8257.
A System for Assessing Dual Action Modulators of Glycine Transporters and Glycine Receptors., Sheipouri D,Gallagher CI,Shimmon S,Rawling T,Vandenberg RJ, Biomolecules. November 30, 2020; 10(12):2218-273X.
Ion permeation controlled by hydrophobic residues and proton binding in the proton-activated chloride channel., Cai R,Tang J,Chen XZ, iScience. November 1, 2021; 24(12):2589-0042.