Results 21 to 30 of about 1,995 (192)

GLRB-Related Hyperekplexia Presenting as Neonatal Seizure-Like Events. [PDF]

J Paediatr Child Health
Journal of Paediatrics and Child Health, Volume 62, Issue 8, Page 1554-1557, August 2026.
Contrucci BA, Bandeira HM, Angonese ST, de Almeida ML, de Oliveira RP, Tumas V, Hamad APA, Traslaviña GAA, Caldas CACT.   +8 more
europepmc   +2 more sources

Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies. [PDF]

Mov Disord Clin Pract
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Morales-Briceño H, Mohammad SS, Angiti RR, Han V, Tchan M, Dale RC, Fung VSC.   +6 more
europepmc   +2 more sources

Diagnostic Dilemma in an Infant With Sound-Triggered Motor Events: Reflex Epilepsy Versus Exaggerated Startle-A Case Report. [PDF]

Clin Case Rep
ABSTRACT Auditory‐triggered motor events in infancy present a significant diagnostic challenge due to overlap between epileptic and non‐epileptic startle phenomena. We report the case of a term female infant with neonatal‐onset seizures and subsequent development of reproducible sound‐triggered jerky movements, raising diagnostic uncertainty between ...
Pandit A, Koirala M, Shahi A, Sharma A, Panta A, Rimal S.   +5 more
europepmc   +2 more sources

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

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   +3 more sources

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