Results 31 to 40 of about 1,995 (192)

Exploring the Conformational Impact of Glycine Receptor TM1-2 Mutations Through Coarse-Grained Analysis and Atomistic Simulations

Frontiers in Molecular Biosciences, 2022
Pentameric ligand-gated ion channels (PLGICs) are a family of proteins that convert chemical signals into ion fluxes through cellular membranes. Their structures are highly conserved across all kingdoms from bacteria to eukaryotes. Beyond their classical
Anil Ranu Mhashal, Ozge Yoluk, Laura Orellana   +2 more
doaj   +1 more source

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

BMC Neurology, 2012
Background Hyperekplexia (HPX) is a rare non-epileptic disorder manifesting immediately after birth with exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, and non-habituating generalized flexor spasm in ...
Seidahmed Mohammed, Salih Mustafa A, Abdulbasit Omer B, Shaheed Meeralebbae, Al Hussein Khalid, Miqdad Abeer M, Al Rasheed Abdullah K, Alazami Anas M, Alorainy Ibrahim A, Alkuraya Fowzan S   +9 more
doaj   +1 more source

Persisting hyperekplexia after idiopathic, self-limiting brainstem encephalopathy. [PDF]

, 2007
Contains fulltext : 51533.pdf (Publisher’s version ) (Open Access)Symptomatic hyperekplexia is a relatively rare entity, but has been documented in various, mostly brainstem diseases. We report the clinical and neurophysiologic vignette
Warrenburg, B.P.C. van de, Brown, Peter, Bhatia, KP, van de Warrenburg, BP, Bhatia, K.P., Brown, P., Cordivari, C., Cordivari, C   +7 more
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The glycinergic system in human startle disease: a genetic screening approach

Frontiers in Molecular Neuroscience, 2010
Human startle disease, also known as hyperekplexia (OMIM 149400), is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterised by an exaggerated startle reflex in response to tactile or acoustic
Jeff S Davies, Seo-Kyung Chung, Rhys H Thomas, Angela Robinson, Carrie L Hammond, Jonathan G L Mullins, Eloisa Carta, Brian R Pearce, Kirsten Harvey, Robert J Harvey, Mark I Rees, Mark I Rees   +11 more
doaj   +1 more source

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 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

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

Microarray gene expression profiling of neural tissues in bovine spastic paresis [PDF]

, 2013
Bovine Spastic Paresis (BSP) is a neuromuscular disorder which affects both male and female cattle. BSP is characterized by spastic contraction and overextension of the gastrocnemious muscle of one or both limbs and is associated with a scarce increase ...
Pariset, Lorraine, Cesare EM Gruber, Bicorgna, Silvia, Valentini, Alessio, Alessio Valentini, Prosperini, Gianluca, Chillemi, Giovanni, Susana Bueno, Bongiorni, Silvia, Giovanni Chillemi, Gruber, Cesare E M, Lorraine Pariset, Silvia Bicorgna, Gentile, Arcangelo, Gianluca Prosperini, Bueno, Susana, Silvia Bongiorni, Arcangelo Gentile   +17 more
core   +1 more source

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

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