Results 61 to 70 of about 2,568 (202)

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism [PDF]

, 2016
Non-syndromal X-linked intellectual disability (NS-XLID) represents a broad group of clinical disorders in which ID is the only clinically consistent manifestation.
Grannò, S, Harvey, K, Harvey, RJ, James, VM, Johnson, JP, Long, P, May, MM, Schwartz, CE, Stevenson, RE, Tarpey, P   +9 more
core   +2 more sources

Sporadic hyperekplexia due to self-limiting brainstem encephalopathy

Neuropsychiatric Disease and Treatment, 2017
Dilek Yilmaz,1 Bülent Cengiz2 1Department of Neurology, Konya Numune State Hospital, Konya, 2Department of Neurology, Gazi University Faculty of Medicine, Ankara, Turkey Abstract: Hyperekplexia is a rare movement disorder characterized by ...
Yilmaz D, Cengiz B
doaj  

Glycine transporters GlyT1 and GlyT2 are differentially modulated by glycogen synthase kinase 3β [PDF]

, 2016
© 2014 Elsevier Ltd. All rights reserved. Inhibitory glycinergic neurotransmission is terminated by the specific glycine transporters GlyT1 and GlyT2 which actively reuptake glycine from the synaptic cleft.
Giménez, C., Ibáñez, Ignacio, Jiménez, Esperanza, Núñez, Enrique, Zafra, Francisco   +4 more
core   +1 more source

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

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

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

Towards translational neuroscience [PDF]

, 2015
Professor Robert Harvey has devoted his research career to studying the molecular neurobiology of inhibitory neurotransmission mediated by glycine and γ-aminobutyric acid.
Harvey, R
core  

Diagnostic des mouvements anormaux du nouveau-né [PDF]

, 2011
RésuméLe nouveau-né est prédisposé à des phénomènes moteurs de sémiologie apparemment proche mais dont les mécanismes sousjacents et les étiologies peuvent être radicalement différents. Une analyse sémiologique fine, aidée au besoin par un enregistrement
S. Nguyen The Tich
core   +4 more sources

Fluorescence-based high-throughput functional profiling of ligand-gated ion channels at the level of single cells [PDF]

, 2013
Ion channels are involved in many physiological processes and are attractive targets for therapeutic intervention. Their functional properties vary according to their subunit composition, which in turn varies in a developmental and tissue-specific manner
A Becchetti, A Esmaeili, A Kümmel, A Wickenden, AM Giddings, Bernard Attali, C Gotti, C van Thriel, CI Spencer, CY Chen, D Gilbert, D Gilbert, D Wang, Daniel F. Gilbert, DE Grigoriadis, DF Gilbert, DF Gilbert, E Neher, F Fuchs, F Weltzien, G Erdmann, GC Terstappen, I Pribilla, J Dunlop, J Hoggatt, Joseph W. Lynch, JP Overington, JW Lynch, JW Lynch, L Fan, LJ Galietta, M Raiteri, MG Mola, MJ Kim, OP Hamill, P Legendre, P Neuži, P Paoletti, R Islam, R Schröder, R Winsky-Sommerer, RJ Harvey, S Stoelzle, SA Eichler, Sahil Talwar, SB Neumann, SK Chung, T Nakagawa, TI Webb, W Kruger   +49 more
core   +3 more sources

A child with hyperekplexia and epileptic myoclonus

Epileptic Disorders, 2018
ABSTRACTHyperekplexia is a rare neurogenetic disorder characterized by startle. Accurate diagnosis of this notorious mimicker of epilepsy is important to prevent life‐threatening apnoea. We report a novel case of concomitant GLRA1‐related hyperkeplexia and myoclonic epilepsy.
Lara, Wadi, Yasser, Medlej, Makram, Obeid   +2 more
openaire   +3 more sources