Results 41 to 50 of about 2,568 (202)

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

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

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

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

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

Genetic neurological channelopathies: molecular genetics and clinical phenotypes [PDF]

, 2015
Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact ...
Hanna, MG, Kullmann, DM, Spillane, J
core   +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

Stiff person syndrome and other immune-mediated movement disorders - new insights [PDF]

, 2016
PURPOSE OF REVIEW: This review highlights the recent developments in immune-mediated movement disorders and how they reflect on clinical practice and our understanding of the underlying pathophysiological mechanisms.
Balint, B, Bhatia, KP
core   +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

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