Results 71 to 80 of about 1,995 (192)

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

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

Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation.

, 2006
Autosomal recessive hyperekplexia is due to loss-of-function mutations in the GLRA1 gene. The authors describe six patients from two consanguineous families with a homozygous deletion of the first seven GLRA1 exons and provide evidence of a founder ...
Pandolfo, Massimo, Sirén, A, Legros, Benjamin, Chahine, Lyne, Misson, J-P   +4 more
core   +1 more source

Rescue of Epilepsy‐Associated Mutations of the Highly Conserved Glycine Residue 443 in the Human GABA Transporter 1

The FASEB Journal, Volume 39, Issue 11, 15 June 2025.
Mutations in the human GABA transporter 1 (hGAT‐1) gene impair GABA transport, leading to developmental disorders like epilepsy and autism. These mutations often disrupt protein folding. Pharmacochaperones can rescue transporter expression and function in heterologous cell lines and in Drosophila melanogaster, thus offering potential therapeutic ...
Nikita Shah, Vasylyna Kovalchuk, Rocco Zerlotti, Kim Cole, Andre Bazzone, Harald H. Sitte, Thomas Hummel, Ameya S. Kasture, Sonja Sucic   +8 more
wiley   +1 more source

Hypertension, hyperekplexia, and pyramidal paresis due to vascular compression of the medulla

, 2000
MRI showed impingement of the vertebral artery on theleft lateral medulla in two patients with arterial hypertension, exaggerated startle reflexes (hyperekplexia), and progressive spastic paresis.
F. Salvi, M. Mascalchi, R. Plasmati, MELETTI, Stefano, S. Stecchi, G. Rubboli, C. Bortolotti, F. Calbucci, C. A. Tassinari, N. Villari   +9 more
core   +1 more source

Immune Dysregulation in a Child With SOD1‐Related Neurological Disease

American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.
ABSTRACT Spastic tetraplegia and axial hypotonia (STAHP) associated with biallelic SOD1 deficiency is a recently described neurological disorder affecting children. Five studies have described a total of nine cases thus far, all characterized by the onset of progressive spastic tetraplegia beginning before 2 years of age. All but two of these cases are
Rozlyn Claire Thomas Boutin, Farzaneh Shobeirian, Shelin Adam, Anna Lehman, Ramona Salvarinova, Jan M Friedman   +5 more
wiley   +1 more source

Functional recovery of glycine receptors in spastic murine model of startle disease

Neurobiology of Disease, 2006
Clinical variability is common in inherited gene defects of the central nervous system in humans and in animal models of human disorders. Here, we used the homozygous spastic (spa) mutant mice, which resemble human hereditary hyperekplexia, to determine ...
Annamaria Molon, Simone Di Giovanni, Yetrib Hathout, JoAnne Natale, Eric P. Hoffman   +4 more
doaj   +1 more source

Neurophysiological Insights into the Pathophysiology of Stiff‐Person Spectrum Disorders

Movement Disorders Clinical Practice, Volume 12, Issue 4, Page 409-417, April 2025.
Abstract Background Stiff Person Spectrum Disorders (SPSD) are classically defined by the presence of muscle stiffness, spasms and hyperactivity of the central nervous system. There is a notable correlation between neurophysiological features and the clinical hallmark of SPSD, which has greatly encouraged the use of these techniques for diagnostic ...
João Moura, Lorenzo Rocchi, Michael Zandi, Bettina Balint, Kailash P. Bhatia, Anna Latorre   +5 more
wiley   +1 more source

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

Neurobiology of Disease, 2013
Startle disease is a rare, potentially fatal neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden unexpected auditory, visual or tactile stimuli.
Victoria M. James, Anna Bode, Seo-Kyung Chung, Jennifer L. Gill, Maartje Nielsen, Frances M. Cowan, Mihailo Vujic, Rhys H. Thomas, Mark I. Rees, Kirsten Harvey, Angelo Keramidas, Maya Topf, Ieke Ginjaar, Joseph W. Lynch, Robert J. Harvey   +14 more
doaj   +1 more source

Research Progress in the Study of Startle Reflex to Disease States

Neuropsychiatric Disease and Treatment, 2022
Junfeng Zhang,1,2 Meng Wang,1 Baoyu Wei,3 Jiangwei Shi,1 Tao Yu1 1First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, 300380, People’s Republic of China; 2National Clinical Research Center for Chinese Medicine ...
Zhang J, Wang M, Wei B, Shi J, Yu T
doaj