Results 41 to 50 of about 1,995 (192)

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

BMC Medical Genetics, 2019
Background Hyperekplexia also known as Startle disease is a rare neuromotor hereditary disorder characterized by exaggerated startle responses to unexpected auditory, tactile, and visual stimuli and generalized muscle stiffness, which both gradually ...
Teresa Sprovieri, Carmine Ungaro, Serena Sivo, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Luigi Citrigno, Maria Muglia, Francesca Cavalcanti, Sebastiano Cavallaro, Eugenio Mercuri, Domenica Battaglia   +11 more
doaj   +1 more source

Hyperekplexia: overexcitable and underdiagnosed [PDF]

Developmental Medicine & Child Neurology, 2014
This commentary is on the original article by Mine et al. on pages 372–377 of this issue.
openaire   +3 more sources

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.
VETRUGNO R, MASCALCHI M, VELLA A, DELLA NAVE R, GUERRINI L, VATTIMO A, MIRAGLIA DEL GIUDICE, Emanuele, PLAZZI G, D'ANGELO R, GRECO G, MONTAGNA P.   +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

Myoclonus

Neurologijos seminarai, 2020
Myoclonus is a sudden, short, involuntary single or recurrent twitching of a muscle. Myoclonus is classified according to the etiology and physiological mechanism of development.
R. Rimšienė , S. Andruškevičius , R. Mameniškienė   +2 more
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

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

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

Mutations affecting glycinergic neurotransmission in hyperekplexia increase pain sensitivity [PDF]

, 2021
See Dickenson (doi:10.1093/brain/awx334) for a scientific commentary on this article. Hyperekplexia is a rare genetic disease resulting in glycine receptor dysfunction.
Schmitt, Bernhard, Arendt-Nielsen, Lars, Fritsche, Raphael, Schliessbach, Jürg, Vuilleumier, Pascal Henri, Curatolo, Michele, Zeilhofer, Hanns Ulrich   +6 more
core  

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