China
Africa
Explore chapters and articles related to this topic
Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Epileptic encephalopathies associated with chorea:28GNAO1 mutations.SCN1A-related phenotypic.FOXG1 mutations.SCN8A mutations.SCN2A-related disorders.UBA5 mutations.DNM1 mutations.FRRS1L mutations.GRIN1/GRIN2B/GRIN2D mutations.
Differential inhibitory effects of resveratrol on excitotoxicity and synaptic plasticity: involvement of NMDA receptor subtypes
Published in Nutritional Neuroscience, 2021
Chung-Pin Hsieh, Wei-Tang Chang, Linyi Chen, Hwei-Hsien Chen, Ming-Huan Chan
Full length human GRIN1, GRIN2A, GRIN2B, GRIN2C and GRIN2D cDNA were amplified using template from the plasmid DNAs, pCDNA/Hygro(-) individually containing human GRIN1, GRIN2A, GRIN2B and GRIN2C cDNA which were generously provided by Dr. Chia-Hsiang Chen (Chang Gung Memorial Hospital). The amplified GRIN1 DNA fragment was infused into pLKO-AS3W.puro vector (National RNAi Core Facility, Academia Sinica, Taipei, Taiwan), and GRIN2A, GRIN2B and GRIN2C fragments were individually infused into pLKO-AS3W.neo vector (National RNAi Core Facility, Academia Sinica, Taipei, Taiwan). GRIN2D cDNA tagged with green fluorescence protein (GFP) cDNA in pCMV6-AC-GFP plasmid DNA (AMS Biotechnology) was also provided by Dr. Chen. Infusions were performed according to instructions provided with the In-Fusion@ HD cloning kit (Takara Bio INC). All constructs were validated by DNA sequencing.
Ionotropic glutamate receptors in platelets: opposing effects and a unifying hypothesis
Published in Platelets, 2021
Maggie L. Kalev-Zylinska, Marie-Christine Morel-Kopp, Christopher M. Ward, James I. Hearn, Justin R. Hamilton, Anna Y. Bogdanova
Most of what we know about NMDAR in platelets has been achieved using traditional agonists and antagonists that are not subunit specific. Novel modulators, particularly those targeting GluN2A and GluN2D may help clarify receptor responses. There are also a number of transgenic mouse models previously generated for neuroscience research, including GRIN2A [74] and GRIN2D knockout mice [75] that are viable and could be used for platelet studies. Rare genetic variants in the genes encoding NMDAR subunits have been identified in humans but most cases are children with severe neurological disabilities [76,77], making platelet function testing challenging if not impossible. Nevertheless, we should seek such opportunities through liaison with neurology teams.
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype
Published in Journal of Neurogenetics, 2021
Antonio Gennaro Nicotera, Daniela Dicanio, Erica Pironti, Maria Bonsignore, Anna Cafeo, Stephanie Efthymiou, Patrizia Mondello, Vincenzo Salpietro, Henry Houlden, Gabriella Di Rosa
However, although other authors yet described encephalopathies caused by mutations in genes involved in glutamate metabolism (GRIN1, GRIN2A, GRIN2B, and GRIN2D) and epilepsy/movement disorders, to date, there are few evidences of association between SLC25A22 gene and movement disorder, whereas no patients with oculogyric crisis are reported (Fernández-Marmiesse et al., 2018; Nicotera, Calì, Vinci, & Musumeci, 2019; Salpietro et al., 2019).