Results 81 to 90 of about 1,802 (202)

4-Chloropropofol enhances chloride currents in human hyperekplexic and artificial mutated glycine receptors

BMC Neurology, 2012
Background The mammalian neurological disorder hereditary hyperekplexia can be attributed to various mutations of strychnine sensitive glycine receptors.
de la Roche Jeanne, Leuwer Martin, Krampfl Klaus, Haeseler Gertrud, Dengler Reinhard, Buchholz Vanessa, Ahrens Jörg   +6 more
doaj   +1 more source

Calnexin-assisted biogenesis of the neuronal glycine transporter 2 (GlyT2).

PLoS ONE, 2013
The neuronal transporter GlyT2 is a polytopic, 12-transmembrane domain, plasma membrane glycoprotein involved in the removal and recycling of synaptic glycine from inhibitory synapses.
Esther Arribas-González, Pablo Alonso-Torres, Carmen Aragón, Beatriz López-Corcuera   +3 more
doaj   +1 more source

Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations

, 1999
Hyperekplexia (MIM 149400), or startle disease, is a neurological disorder characterized by generalized stiffness during the neonatal period, excessive startle reflexes, and generalized stiffness related to the startle response. Linkage analysis mapped a
Frants, RR, Vergouwe, MN, Peters, ACB, Wielaard, R, Tijssen, MAJ   +4 more
core   +2 more sources

Investigating the mechanism by which gain-of-function mutations to the a1 glycine receptor cause hyperekplexia

, 2016
Hyperekplexia is a rare human neuromotor disorder caused by mutations that impair the efficacy of glycinergic inhibitory neurotransmission. Loss-of-function mutations in the GLRA1 or GLRB genes, which encode the α1 and β glycine receptor (GlyR) subunits,
Nguyen, Bindi, Lynch, Joseph W., Angelo Keramidas, Zhang, Yan, Bode, Anna   +4 more
core   +1 more source

CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
D. Mróz, J. Jagłowska, R. A. Wevers, S. Ziętkiewicz   +3 more
wiley   +1 more source

Refractory Seizures and Encephalopathy in a Neonate: A Rare Case of Molybdenum Cofactor Deficiency Type B - A Case Report

Indian Pediatrics Case Reports
Background: Molybdenum cofactor deficiency (MoCD) is a rare autosomal recessive inborn error of metabolism causing deficiency in molybdenum-dependent enzymes, leading to accumulation of toxic metabolites such as sulfite, resulting in severe neurological ...
Pradeep Kumar Sanga, Kailas Randad, Qudsiya Ansari, Akash Sarkate   +3 more
doaj   +1 more source

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms [PDF]

, 2013
Background: Hyperekplexia mutations have provided much information about glycine receptor structure and function. Results: Weidentified and characterized nine new mutations.
Mullins, Jonathan G. L., Graham, Gail E., Matta, Stephanie, Bode, A., Cushion, T. D., Born, A. P., Chatfield, S., Howell, O. W., Krause, Amanda, Masri, A., Pickrell, W. O., Howell, Owain W., Vassallo, G., Hobson, E., Rahme, J. E., Wood, Sian, Mullins, J. G. L., Kara, Bulent, Bartsch, Marius, Thomas, R. H., Hobson, Emma, Karam, E. G., Freilinger, M., Bannasch, Gerald, Wood, Sian-Elin, Aharoni, Sharon, Drew, Cheney J. G., Pickrell, William O., Vanbellinghen, J.-F., Vincent-Delorme, Catherine, Mandel, Hanna, Bode, Anna, Matta, S., Born, Alfred P., Jones, Elizabeth A., Chatfield, Sue, Rees, M. I., Keramidas, Angelo, Thomas, Rhys H., Lynch, J. W., Berkovic, S. F., Bannasch, G., Afawi, Z., Graham, G. E., Freilinger, Michael, Jones, E. A., Aharoni, S., Jain, Vivek, Rahme, Jubran E., Drew, C. J. G., Krause, A., Karam, Elie G., Jain, V., Kara, B., Berkovic, Samuel F., Vincent-Delorme, C., Cushion, Thomas D., Vassallo, Grace, Keramidas, A., Chung, S.-K., Alehan, Fusun, Bartsch, M., Afawi, Zaid, Alehan, F., Mandel, H., Masri, Amira   +65 more
core   +1 more source

Early Neuroimaging in Molybdenum Cofactor Deficiency

Pediatric Neurology Briefs, 2014
Investigators at Wakayama Medical University, Japan, report the neuroimaging features soon after birth in 2 siblings with molybdenum cofactor deficiency (MoCoD) type A.
J Gordon Millichap, John J Millichap
doaj   +1 more source

Hyperekplexia-like syndromes without mutations in the GLRA1 gene

, 1997
Hyperekplexia (MIM: 149400): or startle disease, is an autosomal dominant neurological disorder characterized by an extreme generalized stiffness immediately after birth, normalizing during the first years of life.
Ophoff, RA, Shiang, R, vanDijk, JG, AlShahwan, S, Frants, RR, Vergouwe, MN, Tijssen, MAJ   +6 more
core   +1 more source

Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder

Annals of Clinical and Translational Neurology, 2019
We report sleep phenotypes and polysomnographic findings in two siblings with a novel homozygous variant of the GLRA1 gene causing hereditary hyperekplexia (HH).
Régis Lopez, François Rivier, Jamel Chelly, Yves Dauvilliers   +3 more
doaj   +1 more source