Results 61 to 70 of about 1,995 (192)

Glycine Reverses Behavioral Deficits in a Mouse Model for Psychosis With 4 Copies of the Gldc Gene

Pharmacology Research &Perspectives, Volume 13, Issue 6, December 2025.
Mice with 4 copies of the glycine decarboxylase (Gldc) gene display startle habituation deficits, which are reversed by treatment with glycine. In control‐treated wild type mice (A), the response to the last startle stimuli is lower than the response to the first startle stimuli. In control‐treated mice with 4 copies of the 9p24.1 genes including Gldc (
Muxiao Wang, Maltesh Kambali, Jinrui Lyu, Rajasekar Nagarajan, Uwe Rudolph   +4 more
wiley   +1 more source

Sinus node paucity in hyperekplexia

Indian Pediatrics, 2010
We report a newborn with hyperekplexia and uncontrolled tonic spasms which did not respond to intravenous phenobarbitone and phenytoin, and midazolam infusion. Serum biochemistry, electrocardiography, electroencephalography, lumbar puncture and neuroimaging were normal.
S, Ozkiraz, Z, Gokmen, U A, Orün, F, Alehan   +3 more
openaire   +2 more sources

The Concise Guide to PHARMACOLOGY 2025/26: Transporters

British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Laura Amarosi, Catriona M. H. Anderson, Philip M. Beart, Stefan Broer, Paul A. Dawson, Gergely Gyimesi, Bruno Hagenbuch, James R. Hammond, Jules C. Hancox, Michal Hershfinkel, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Edmund R. S. Kunji, Gavin Stewart, Sotiria Tavoulari, David T. Thwaites, Tiziano Verri   +28 more
wiley   +1 more source

Ethnicity can predict GLRA1 genotypes in hyperekplexia

, 2014
Objectives: Hyperekplexia is predominantly caused by mutations in the α-1 subunit of the inhibitory glycine receptor (GLRA1). Three quarters of cases show autosomal-recessive inheritance.
Seo-Kyung Chung, Thomas, Rhys Huw, Hammond, C. L., Chung, S. K., Mark Rees, Wood, S. E., Rees, M. I., Drew, Cheney   +7 more
core   +1 more source

Development and Preliminary Validation of a Parkinsonism‐Dystonia Scale for Infants and Young Children

Movement Disorders, Volume 40, Issue 8, Page 1669-1679, August 2025.
Abstract Background Parkinsonism in infancy is rare and is highly correlated with the presence of dystonia. Advances in treating and characterizing developmental and infantile degenerative parkinsonism have highlighted the need for a specialized assessment scale.
Roser Pons, Toni S. Pearson, Belen Perez‐Dueñas, Angels Garcia‐Cazorla, Manju A. Kurian, Zoi Dalivigka, Vasiliki Zouvelou, Chrysa Outsika, Eleftheria Kokkinou, Maria Sigatullina‐Bondarenko, Alejandra Darling, Maria del Mar O'Callaghan, Robert Spaull, Dora B.D. Steel, Evdokia Salamou, Maria João Forjaz, Carmen Rodriguez‐Blazquez   +16 more
wiley   +1 more source

Case Report A Confusing Coincidence: Neonatal Hypoglycemic Seizures and Hyperekplexia

, 2020
Hyperekplexia is a rare, nonepileptic, genetic, or sporadic neurologic disorder characterized by startle responses to acoustic, optic, or tactile stimuli.
Oluz Tuncer, Keziban Bulan, Stephen P Peters, Nihat Demir, Murat Dolan, Sanem Yjlmaz, Erdal Peker   +6 more
core  

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

GLRB is the third major gene of effect in hyperekplexia

, 2013
Glycinergic neurotransmission is a major inhibitory influence in the CNS and its disruption triggers a paediatric and adult startle disorder, hyperekplexia.
Thomas, R H, Yamashita, S., Ratnasinghe, D D, Shiang, R, Mullins, Jonathon G, Bode, A., Ratnasinghe, D. D., Cushion, T. D., Lingappa, Lokesh, Verma, Ishwar C., Harvey, R. J., Howell, O. W., Masri, A., Pickrell, W. O., Howell, Owain W., Yamashita, Sumimasa, Wood, Sian, Hunt, C, Harvey, Robert J., Puri, R D, Raile, Vera, Leiz, S., Rittey, Chris, Thomas, R. H., Weschke, B., Lynch, Joseph W., Raile, V, Weschke, B, Leiz, Steffen, Parker, Michael, Leiz, S, Owain Howell, Weschke, Bernhard, Bode, A, Wood, Sian-Elin, Seo-Kyung Chung, Harvey, Robert J, Pickrell, W O, Rittey, C, Longhardt, Ann-Carolyn, Drew, Cheney J. G., Chung, S K, Parker, M., Verma, I C, Pickrell, William O., Vanbellinghen, J.-F., Longhardt, A.-C., Bode, Anna, Rittey, C., Verma, I. C., Thomas Cushion, Ratnasinghe, Didi D., Hunt, C., Drew, C J G, Mullins, Jonathan G., Cushion, T D, Shiang, Rita, Rees, Mark I, Rees, M. I., Vanbellinghen, Jean-François, Wood, S E, Howell, Owain W, Thomas, Rhys H., Yamashita, S, Lynch, J. W., Parker, M, Lynch, Joseph W, Chung, Seo-Kyung, Mullins, J. G., Raile, V., Drew, C. J. G., Hunt, Charlotte, Jonathan Mullins, Owen Pickrell, Rees, Mark I., Puri, Ratna D., Cushion, Thomas D., Chung, S.-K., Rhys Thomas, Mark Rees, Masri, Chris, Lingappa, L., Longardt, A C, Puri, R. D., Masri, Amira, Shiang, R.   +85 more
core   +2 more sources

Modification of a Putative Third Sodium Site in the Glycine Transporter GlyT2 Influences the Chloride Dependence of Substrate Transport

Frontiers in Molecular Neuroscience, 2018
Neurotransmitter removal from glycine-mediated synapses relies on two sodium-driven high-affinity plasma membrane GlyTs that control neurotransmitter availability.
Cristina Benito-Muñoz, Cristina Benito-Muñoz, Almudena Perona, David Abia, Helena G. dos Santos, Enrique Núñez, Carmen Aragón, Carmen Aragón, Carmen Aragón, Carmen Aragón, Beatriz López-Corcuera, Beatriz López-Corcuera, Beatriz López-Corcuera, Beatriz López-Corcuera   +13 more
doaj   +1 more source

Pleiotropic Effects of the NSAID Fenamates on Chloride Channels: Opportunity for Ion Channelopathies?

Pharmacology Research &Perspectives, Volume 13, Issue 4, August 2025.
ABSTRACT Chloride channels are involved in many cellular processes, including cell volume regulation, modulation of cell excitability, and electrolyte and water secretion. Mutations of these proteins are associated with heterogeneous diseases such as myotonia, cystic fibrosis, epilepsy, deafness, lysosomal storage disease, and various kinds of renal ...
Paola Laghetti, Ilaria Saltarella, Simone Dell'Atti, Jean‐François Desaphy, Concetta Altamura   +4 more
wiley   +1 more source