Results 61 to 70 of about 1,033 (156)

A child with hyperekplexia and epileptic myoclonus [PDF]

, 2018
Hyperekplexia is a rare neurogenetic disorder characterized by startle. Accurate diagnosis of this notorious mimicker of epilepsy is important to prevent life-threatening apnoea.
Lara Wadi, Medlej, Yasser, Wadi, Lara Carine, Yasser Medlej, Obeid, Makram, Makram Obeid   +5 more
core   +1 more source

A systematic review of dexmedetomidine pharmacology in pediatric patients

Clinical and Translational Science, Volume 17, Issue 12, December 2024.
Abstract Dexmedetomidine is a centrally acting alpha‐2 agonist used for initiation and maintenance of procedural sedation and mechanical ventilation in adult and pediatric settings. It is commonly used in both pediatric and neonatal intensive care units.
Aislinn O'Kane, Sara K. Quinney, Emily Kinney, Richard F. Bergstrom, Emma M. Tillman   +4 more
wiley   +1 more source

Spinal cord stimulation for the symptomatic treatment of rigidity and painful spasm in a case of stiff person syndrome

Pain Practice, Volume 24, Issue 5, Page 798-804, June 2024.
Abstract Background Stiff person syndrome (SPS) is a rare neuroimmunological disorder characterized by rigidity and painful spasm primarily affecting the truncal and paraspinal musculature due to autoimmune‐mediated neuronal hyperexcitability. Spinal cord stimulation (SCS) is an approved therapy for managing painful neuropathic conditions, including ...
Janus Patel, Emily Deschler, Enrique Galang   +2 more
wiley   +1 more source

A Missense Mutation in the Gene Encoding the Alpha(1) Subunit of the Inhibitory Glycine Receptor in the Spasmodic Mouse

, 1994
Hereditary hyperekplexia, an autosomal dominant neurologic disorder characterized by an exaggerated startle reflex and neonatal hypertonia, can be caused by mutations in the gene encoding the alpha(1) subunit of the inhibitory glycine receptor (GLRA1 ...
Oconnell, P, Shiang, R, Sally A. Camper, Buckwalter, MS, Camper, SA, Ryan, SG, Cheryl A. Handford, Peter O'Connell, Segura, L, Rita Shiang, John J. Wasmuth, Joseph W. Lynch, Lillian Segura, Lynch, JW, Handford, CA, Stephen G. Ryan, Schofield, P, Marion S. Buckwalter, Wasmuth, JJ, Peter Schofield   +19 more
core   +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

C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia

Medicine, 2020
Abstract Introduction: Hyperekplexia is a rare hereditary neurological disorder; only 5 glycine receptor alpha 1 subunit gene (GLRA1) mutations have been reported in 5 Chinese patients. We report a Chinese infant with hyperekplexia and a novel mutation at c.292G > A.
Zhang, Yan, Wu, Ling-Ling, Zheng, Xiao-Lan, Lin, Cai-Mei   +3 more
openaire   +2 more sources

Nmf11 is a novel ENU-induced mutation in the mouse glycine receptor alpha 1 subunit.

, 2006
Nmf11 is an N-ethyl-N-nitrosourea-induced recessive mouse mutation. In this article we show that the mutation is in the gene that encodes the glycine receptor alpha 1 subunit (Glra1).
Seburn, K L, Popko, B, Traka, M
core   +1 more source

Isoform Heterogeneity of the Human Gephyrin Gene (GPHN), Binding Domains to the Glycine Receptor, and Mutation Analysis in Hyperekplexia [PDF]

, 2003
Gephyrin (GPHN) is an organizational protein that clusters and localizes the inhibitory glycine (GlyR) and GABAA receptors to the microtubular matrix of the neuronal postsynaptic membrane.
Ward, H, Ward, Hamish, Waldvogel, H J, Coleman, S L, Snell, Russell G., Smart, T G, Hsu, C C H, Snell, R G, Hsu, Cynthia C.-H., White, J H, Gibbon, F, Duguid, Ian C., Coleman, Sharon Louise, Evans, L, Miller, Jan, Harvey, Robert J., Harvey, K, Evans, Luc, Owen, Michael John, Baer, Kristin, Waldvogel, Henry J., Owen, M J, Harvey, Kirsten, Smart, Trevor G., Miller, J, Duguid, I C, Baer, K, Rees, Mark I., Rees, M I, Harvey, Robert J, White, Julia H., Mark Rees, Gibbon, Francis   +32 more
core   +1 more source

Hyperekplexia Phenotype of Glycine Receptor α1 Subunit Mutant Mice Identifies Zn2+ as an Essential Endogenous Modulator of Glycinergic Neurotransmission

, 2006
SummaryZn2+ is thought to modulate neurotransmission by affecting currents mediated by ligand-gated ion channels and transmitter reuptake by Na+-dependent transporter systems.
Seeliger, M., Müller, Ulrike, Bodo Laube, Joanna Grudzinska, Ulrike Müller, Swen Hülsmann, Latal, A.Tobias, Hirzel, K., Seeliger, Mathias W., Hirzel, Klaus, Betz, Heinrich, Laube, B., Hülsmann, Swen, A. Tobias Latal, Grudzinska, J., Müller, U., Betz, H., Mathias W. Seeliger, Latal, A Tobias, Latal, A., Latal, A. Tobias, Laube, Bodo, Heinrich Betz, Klaus Hirzel, Grudzinska, Joanna, Hülsmann, S.   +25 more
core   +1 more source

Major and minor form of hereditary hyperekplexia.

, 2002
Hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. Within the disorder two clinical forms can be distinguished.
Peter Brown, Rees, M, Frants, RR, Marina A.J. Tijssen, Tijssen, MA, van Dijk, JG, Rune R. Frants, J. Gert van Dijk, Tijssen, MAJ, Michelle Rees, Brown, Peter, Vergouwe, MN, Brown, P, Monique N. Vergouwe   +13 more
core   +1 more source