Results 61 to 70 of about 1,802 (202)

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

Hyperekplexia Masquerading as Epilepsy [PDF]

The Indian Journal of Pediatrics, 2011
Sir,Hyperekplexia is a rare neurogenetic disorder of glycineneurotransmission, characterized by an exaggerated startleresponse to tactile or acoustic stimuli and tonic spasms [1]. Anon-habituating startle response to nose tapping is consid-ered as clinical hallmark [2].
Jitendra Kumar Sahu, Anita Choudhary, Indranil Ghosh, Sheffali Gulati, Madhulika Kabra, Takeshi Taketani, Veena Kalra   +6 more
openaire   +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

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

Benign Idiopathic Myoclonus: A New Clinical Entity?

Movement Disorders Clinical Practice, Volume 12, Issue 7, Page 938-946, July 2025.
Abstract Background Myoclonus is a brief shock‐like, involuntary movement, which can be distinguished in physiologic, essential, epileptic, and symptomatic, according to its etiology. Physiologic myoclonus typically occurs in healthy people without disability or progression.
Giorgia Sciacca, A.M. Madelein van der Stouwe, Sterre van der Veen, Hendriekje Eggink, Martje E. van Egmond, Jan Willem J. Elting, Marina A.J. Tijssen   +6 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

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

Characterization of the Zebrafish Glycine Receptor Family Reveals Insights Into Glycine Receptor Structure Function and Stoichiometry

Frontiers in Molecular Neuroscience, 2018
To study characterization of zebrafish glycine receptors (zGlyRs), we assessed expression and function of five α- and two ß-subunit encoding GlyR in zebrafish.
Sean Eric Low, Daishi Ito, Hiromi Hirata
doaj   +1 more source