Results 21 to 30 of about 1,802 (202)

STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia. [PDF]

Mov Disord Clin Pract
Abstract Background Although initial clinical presentation of hyperekplexia/startle disease is well known, data regarding long‐term clinical outcomes is lacking. Objectives We provide a long‐term evaluation from clinical and pharmacological perspectives, focusing on neurodevelopmental trajectory. Methods Twenty‐eight patients from nine French hospitals
Pina D, Roubertie A, Spitz MA, Ravelli C, Bahi-Buisson N, Gheurbi F, Buchy M, Loppinet T, Chemaly-Perin N, Nougues MC, Heron B, Lopez R, Anheim M, Fradin M, Cances C, Avez-Couturier J, Dalmon F, Lesca G, Des Portes V, Lion-François L.   +19 more
europepmc   +2 more sources

Strain Traits of Intracranially Administered L-Type Bovine Spongiform Encephalopathy Prions Are not Significantly Modified During Intraspecies Transmission in Cynomolgus Monkeys. [PDF]

Microbiol Immunol
ABSTRACT Among the three prion strains of bovine spongiform encephalopathy (BSE), classical BSE (C‐BSE) prions are known causative agents of variant Creutzfeldt–Jakob disease. By contrast, human infections with L‐type (L‐) or H‐type (H‐) BSE prions have not been reported.
Hagiwara K, Shibata H, Tobiume M, Sato Y, Ohto K, Okabayashi S, Nakano N, Horiuchi M, Ono F.   +8 more
europepmc   +2 more sources

Novel Functional Properties of Missense Mutations in the Glycine Receptor β Subunit in Startle Disease

Frontiers in Molecular Neuroscience, 2021
Startle disease is a rare disorder associated with mutations in GLRA1 and GLRB, encoding glycine receptor (GlyR) α1 and β subunits, which enable fast synaptic inhibitory transmission in the spinal cord and brainstem.
Inken Piro, Anna-Lena Eckes, Vikram Babu Kasaragod, Claudia Sommer, Robert J. Harvey, Robert J. Harvey, Natascha Schaefer, Carmen Villmann   +7 more
doaj   +1 more source

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering [PDF]

, 2004
Glycine receptors (GlyRs) and specific subtypes of GABA(A) receptors are clustered at synapses by the multidomain protein gephyrin, which in turn is translocated to the cell membrane by the GDP-GTP exchange factor collybistin.
Ward, H, Harvey, R.J., Alldred, Melissa J., Smart, T.G., Luscher, B, Duguid, Ian C, Lingenfelter, S E, Duguid, IC, Ward, H., Lingenfelter, Sue E., Alldred, M.J., Harvey, Robert J., Pearce, B R, Lundgren, J.D., Harvey, K, Owen, Michael John, Pearce, Brian R., Beatty, S.E., Smart, Trevor G., Owens, Max J., Keep, N H, Harvey, RJ, Lingenfelter, S.E., Harvey, Robert J, Keep, NH, Lundgren, J, Owen, MJ, Lund University., Ward, Hamish, Smart, T G, Pearce, B.R., Lüscher, Bernhard, Beatty, Sarah E., Lingenfelter, SE, Lundgren, Johan,, Keep, Nicholas H., Lundgren, Johan, Luscher, B., Harvey, K., Smart, TG, Alldred, M J, Beatty, SE, Owen, M J, Beatty, S E, Alldred, MJ, Rees, MI, Harvey, Kirsten, Duguid, I C, Rees, Mark I., Rees, M I, Duguid, I.C., Pearce, BR, Mark Rees, Rees, M.I.   +53 more
core   +1 more source

Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia [PDF]

, 2010
Hyperekplexia is a rare, but potentially fatal, neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden, unexpected auditory or tactile stimuli.
Thomas, R H, Mullins, J G L, Mullins, Jonathan G. L., Chung, SK, Shiang, R, Mullins, JGL, Thomas, Rhy H., Kruer, Michael C, Vanbellinghen, J F, Christodoulou, John, Gilbert, DF, Ferrie, Colin, Harvey, Robert J., Harvey, K, Gurses, C, Lynch, Joseph W., Lynch, J W, Robinson, A, Mullins, Jonathan G L, Ferrie, C, Robinson, Angela, Ryan, Monique, Lynch, JW, Hammond, Carrie L., Harvey, RJ, Freilinger, M, Thomas, RH, Harvey, Robert J, Seo-Kyung Chung, Chung, S K, Andermann, Frederick, Gilbert, Daniel F., Kruer, MC, Ryan, M, Andermann, Eva, Hantke, Janina, Shiang, Rita, Rees, Mark I, Vanbellinghen, Jean-François, Christodoulou, J, Thomas, Rhys H., Lynch, Joseph W, Hammond, C L, Freilinger, Michael, Gurses, Candan, Chung, Seo-Kyung, Kruer, M C, Vanbellinghen, JF, Thomas, Rhys H, Rees, MI, Harvey, Kirsten, Jonathan Mullins, Gilbert, D F, Hammond, CL, Rees, Mark I., Rees, M I, Gilbert, Daniel F, Kruer, Michael C., Andermann, F, Andermann, E, Mark Rees, Masri, A, Hantke, J, Hammond, Carrie L, Masri, Amira   +64 more
core   +2 more sources

Identification of a stereotypic molecular arrangement of endogenous glycine receptors at spinal cord synapses

eLife, 2021
Precise quantitative information about the molecular architecture of synapses is essential to understanding the functional specificity and downstream signaling processes at specific populations of synapses.
Stephanie A Maynard, Philippe Rostaing, Natascha Schaefer, Olivier Gemin, Adrien Candat, Andréa Dumoulin, Carmen Villmann, Antoine Triller, Christian G Specht   +8 more
doaj   +1 more source

Mutations affecting glycinergic neurotransmission in hyperekplexia increase pain sensitivity [PDF]

, 2017
Inhibitory interneurons in the spinal cord use glycine and GABA for fast inhibitory neurotransmission. While there is abundant research on these inhibitory pain pathways in animal models, their relevance in humans remains unclear, largely due to the ...
Zeilhofer, Hanns U., Arendt-Nielsen, Lars, Pascal Henri Vuilleumier, Schliessbach, Jürg, Schmitt, Bernhard, Raphael Fritsche, Lars Arendt-Nielsen, Fritsche, Raphael, Michele Curatolo, Bernhard Schmitt, Vuilleumier, Pascal Henri, Curatolo, Michele, Hanns Ulrich Zeilhofer, Zeilhofer, Hanns Ulrich, Jürg Schliessbach   +14 more
core   +1 more source

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

BMC Medical Genetics, 2017
Background The pathogenesis of hereditary hyperekplexia is thought to involve abnormalities in the glycinergic neurotransmission system, the most of mutations reported in GLRA1.
Zhiliang Yang, Guilian Sun, Fang Yao, Dongying Tao, Binlu Zhu   +4 more
doaj   +1 more source

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