Results 41 to 50 of about 1,802 (202)

Pontine hyperperfusion in sporadic hyperekplexia [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2007
To explore with neuroimaging techniques the anatomical and functional correlates of sporadic hyperekplexia.Two elderly women with sporadic hyperekplexia underwent neurophysiological assessment, MRI of the brain and proton magnetic resonance spectroscopy (1H-MRS) of the brainstem and frontal lobes.
R. Vetrugno, MASCALCHI, MARIO, VELLA, ALESSANDRA, R. Della Nave, L. Guerrini, A. Vattimo, W. M. Del Giudice, G. Plazzi, R. D'Angelo, G. Greco, P. Montagna   +10 more
openaire   +4 more sources

Distúrbios paroxísticos não-epilépticos Paroxysmal non-epileptic events

Jornal de Pediatria, 2002
Objetivo: este artigo tem como objetivo discutir um dos principais problemas com os quais um pediatra geral tem que lidar no campo da neurologia infantil, que são os distúrbios paroxísticos não-epilépticos.
Márcio A. Sotero de Menezes
doaj   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

A Case of Hyperekplexia That Started From Childhood: Clinical Diagnosis With Negative Genetic Investigations

Frontiers in Neurology, 2020
Here, we report the case of a 63-year-old woman affected by abnormal, excessive, and involuntary reactions to harmless and unexpected sensory stimuli, compatible with the diagnosis of hyperekplexia.
Annibale Antonioni, Giovanni Peschi, Enrico Granieri   +2 more
doaj   +1 more source

Sporadic hyperekplexia plus syndrome

Journal of Pediatric Neurosciences, 2017
A disorder of infants and children with pathological startle response, features of other system involvement, falls, and stiffness with retained consciousness. It should be differentiated from conditions such as myoclonic epilepsy, psychogenic movement disorder, Isaac syndrome, Schwartz-Jampel syndrome, Gilles de la Tourette, and culture-specific ...
Chandra, Sadanandavalli Retnaswami, Vekhande, Chetan, Viswanathan, Lakshminarayanapuram Gopal, Mailankody, Pooja, Teja, Karru Venkata Ravi   +4 more
openaire   +3 more sources

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Disturbances of ligand potency and enhanced degradation of the human glycine receptor at affected positions G160 and T162 originally identified in patients suffering from hyperekplexia

Frontiers in Molecular Neuroscience, 2015
Ligand-binding of Cys-loop receptors is determined by N-terminal extracellular loop structures from the plus as well as from the minus side of two adjacent subunits in the pentameric receptor complex. An aromatic residue in loop B of the glycine receptor
Sinem eAtak, Georg eLanglhofer, Natascha eSchaefer, Denise eKessler, Heike eMeiselbach, Carolyn eDelto, Hermann eSchindelin, Carmen eVillmann   +7 more
doaj   +1 more source

NMDA and glycine receptors provide dual presynaptic regulation on climbing fibre inputs to cerebellar Purkinje cells

The Journal of Physiology, Volume 604, Issue 12, Page 4926-4944, 15 June 2026.
Abstract figure legend Vibrodissociated Pukinje neurons retain active synaptic connections, including those from adhering fragments of the climbing fibre. These fragments generate excitatory synaptic events and the frequency of these events is increased by exposure to either NMDA [with d‐serine (d‐ser) as a co‐agonist] or glycine at a high (100 µM ...
David C. H. Benton, Alan D. Robertson, Matthew Caldwell, Yuriy Pankratov, Lema Imam, Trevor G. Smart, Gareth Morris, Guy W. J. Moss   +7 more
wiley   +1 more source

Glycine receptor mutants of the mouse: what are possible routes of inhibitory compensation?

Frontiers in Molecular Neuroscience, 2012
Defects in glycinergic inhibition result in a complex neuromotor disorder in humans known as hyperekplexia (OMIM 149400) with similar phenotypes in rodents characterized by an exaggerated startle reflex and hypertonia.
Natascha eSchaefer, Nicolas eVogel, Carmen eVillmann   +2 more
doaj   +1 more source

Stiff Person Spectrum Disorders—An Update and Outlook on Clinical, Pathophysiological and Treatment Perspectives

Biomedicines, 2023
Stiff person spectrum disorders (SPSD) are paradigm autoimmune movement disorders characterized by stiffness, spasms and hyperekplexia. Though rare, SPSD represent a not-to-miss diagnosis because of the associated disease burden and treatment ...
Benjamin Vlad, Yujie Wang, Scott D. Newsome, Bettina Balint   +3 more
doaj   +1 more source