Results 31 to 40 of about 2,568 (202)

Human Hyperekplexic Mutations in Glycine Receptors Disinhibit the Brainstem by Hijacking GABAA Receptors

iScience, 2019
Summary: Hyperekplexia disease is usually caused by naturally occurring point mutations in glycine receptors (GlyRs). However, the γ-aminobutyric acid type A receptor (GABAAR) seems to be also involved regarding the therapeutic basis for hyperekplexia ...
Guichang Zou, Qi Chen, Kai Chen, Xin Zuo, Yushu Ge, Yiwen Hou, Tao Pan, Huilin Pan, Dan Liu, Li Zhang, Wei Xiong   +10 more
doaj   +1 more source

A pedigree of hereditary hyperekplexia

Rinsho Shinkeigaku, 2018
A 31-year old women presented with excessive startle reflex and frequent falls. Her startle reflex is induced by slight stimuli which are not problematic in most people. Soon after her startle reflex is evoked, generalized muscle stiffness occurs. She becomes rigid and falls down without loss of consciousness.
Hideyuki, Moriyoshi, Yukiko, Hata, Ryosuke, Inagaki, Junichiro, Suzuki, Suguru, Nishida, Naoki, Nishida, Yasuhiro, Ito   +6 more
openaire   +3 more sources

A critical role for glycine transporters in hyperexcitability disorders

Frontiers in Molecular Neuroscience, 2008
Defects in mammalian glycinergic neurotransmission result in a complex motor disorder characterized by neonatal hypertonia and an exaggerated startle refl ex, known as hyperekplexia (OMIM 149400).
Robert J Harvey, Eloisa Carta, Brian R Pearce, Seo-Kyung Chung, Stéphane Supplisson, Mark I Rees, Mark I Rees, Kirsten Harvey   +7 more
doaj   +1 more source

Disruption of a structurally important extracellular element in the Glycine Receptor leads to decreased synaptic integration and signaling resulting in Severe Startle Disease [PDF]

, 2017
Functional impairments or trafficking defects of inhibitory glycine receptors (GlyRs) have been linked to human hyperekplexia/startle disease and autism spectrum disorders.
Alzheimer, C., Berger, A., Davydova, D., Harvey, R.J., Jablonka, S., Leacock, S., Littau, L., Lynch, J.W., Malhotra, S., Paige, C.J., Schaefer, N., Topf, Maya, van Brederode, J., Villmann, C., Winter, F., Zhang, Y., Zheng, F.   +16 more
core   +3 more sources

Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses

Frontiers in Molecular Neuroscience, 2018
Inhibitory glycine receptors (GlyRs) are pentameric ligand-gated anion channels with major roles in startle disease/hyperekplexia (GlyR α1), cortical neuronal migration/autism spectrum disorder (GlyR α2), and inflammatory pain sensitization/rhythmic ...
Sophie Leacock, Parnayan Syed, Victoria M. James, Anna Bode, Koichi Kawakami, Angelo Keramidas, Maximiliano Suster, Joseph W. Lynch, Joseph W. Lynch, Robert J. Harvey, Robert J. Harvey   +10 more
doaj   +1 more source

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

An unusual startling

Indian Journal of Psychological Medicine, 2015
Hyperekplexia is a rare movement disorder, which is mostly of genetic origin; though acquired cases are rarely reported. This disorder is characterized by excessive startling response to external stimuli; this can be disenabling, affecting quality-of ...
Ibrahim Aliyu, Zainab Ibrahim
doaj   +1 more source

Function of hyperekplexia-causing alpha(1)R271Q/L glycine receptors is restored by shifting the affected residue out of the allosteric signaling pathway [PDF]

, 2012
BACKGROUND AND PURPOSE Glycine receptor a1 subunit R271Q and R271L (a1R271Q/L) mutations cause the neuromotor disorder, hereditary hyperekplexia. Studies suggest that the 271 residue is located within the allosteric signalling pathway linking the agonist
Alexander, Bakker, Bocquet, Bouzat, Brejc, Browne, Bykov, Bykov, Chung, Collins, Colquhoun, del Sol, Franks, Gandhi, Grudzinska, Harvey, Hibbs, Hilf, Hilf, Hosie, Joerger, Kar, Kumar, Lambert, Langosch, Lee, Liman, Lummis, Lynagh, Lynch, Lynch, Lynch, Mihic, Miller, Nury, O'Shea, Pless, Pless, Rajendra, Rajendra, Rees, Shan, Shan, Shan, Shan, Sinha, Thomas, Thompson, Todd, Unwin, Wang, Zhou   +51 more
core   +1 more source

Hyperekplexia: overexcitable and underdiagnosed [PDF]

Developmental Medicine & Child Neurology, 2014
This commentary is on the original article by Mine et al. on pages 372–377 of this issue.
openaire   +3 more sources

The surface accessibility of the glycine receptor M2-M3 loop is increased in the channel open state [PDF]

, 2001
Mutations in the extracellular M2-M3 loop of the glycine receptor (GlyR) alpha1 subunit have been shown previously to affect channel gating. In this study, the substituted cysteine accessibility method was used to investigate whether a structural ...
Haddrill, J., Han, N. L. R., Lynch, J. W., Pierce, K. D., Schofield, P. R.   +4 more
core   +1 more source