Results 31 to 40 of about 1,802 (202)

The glycinergic system in human startle disease: a genetic screening approach

Frontiers in Molecular Neuroscience, 2010
Human startle disease, also known as hyperekplexia (OMIM 149400), is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterised by an exaggerated startle reflex in response to tactile or acoustic
Jeff S Davies, Seo-Kyung Chung, Rhys H Thomas, Angela Robinson, Carrie L Hammond, Jonathan G L Mullins, Eloisa Carta, Brian R Pearce, Kirsten Harvey, Robert J Harvey, Mark I Rees, Mark I Rees   +11 more
doaj   +1 more source

A pedigree of hereditary hyperekplexia

Rinsho Shinkeigaku, 2018
A 31-year old women presented with excessive startle reflex and frequent falls. Her startle reflex is induced by slight stimuli which are not problematic in most people. Soon after her startle reflex is evoked, generalized muscle stiffness occurs. She becomes rigid and falls down without loss of consciousness.
Hideyuki, Moriyoshi, Yukiko, Hata, Ryosuke, Inagaki, Junichiro, Suzuki, Suguru, Nishida, Naoki, Nishida, Yasuhiro, Ito   +6 more
openaire   +3 more sources

Human Hyperekplexic Mutations in Glycine Receptors Disinhibit the Brainstem by Hijacking GABAA Receptors

iScience, 2019
Summary: Hyperekplexia disease is usually caused by naturally occurring point mutations in glycine receptors (GlyRs). However, the γ-aminobutyric acid type A receptor (GABAAR) seems to be also involved regarding the therapeutic basis for hyperekplexia ...
Guichang Zou, Qi Chen, Kai Chen, Xin Zuo, Yushu Ge, Yiwen Hou, Tao Pan, Huilin Pan, Dan Liu, Li Zhang, Wei Xiong   +10 more
doaj   +1 more source

Neurophysiological Insights into the Pathophysiology of Stiff-Person Spectrum Disorders. [PDF]

Mov Disord Clin Pract
Abstract Background Stiff Person Spectrum Disorders (SPSD) are classically defined by the presence of muscle stiffness, spasms and hyperactivity of the central nervous system. There is a notable correlation between neurophysiological features and the clinical hallmark of SPSD, which has greatly encouraged the use of these techniques for diagnostic ...
Moura J, Rocchi L, Zandi M, Balint B, Bhatia KP, Latorre A.   +5 more
europepmc   +2 more sources

A critical role for glycine transporters in hyperexcitability disorders

Frontiers in Molecular Neuroscience, 2008
Defects in mammalian glycinergic neurotransmission result in a complex motor disorder characterized by neonatal hypertonia and an exaggerated startle refl ex, known as hyperekplexia (OMIM 149400).
Robert J Harvey, Eloisa Carta, Brian R Pearce, Seo-Kyung Chung, Stéphane Supplisson, Mark I Rees, Mark I Rees, Kirsten Harvey   +7 more
doaj   +1 more source

Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses

Frontiers in Molecular Neuroscience, 2018
Inhibitory glycine receptors (GlyRs) are pentameric ligand-gated anion channels with major roles in startle disease/hyperekplexia (GlyR α1), cortical neuronal migration/autism spectrum disorder (GlyR α2), and inflammatory pain sensitization/rhythmic ...
Sophie Leacock, Parnayan Syed, Victoria M. James, Anna Bode, Koichi Kawakami, Angelo Keramidas, Maximiliano Suster, Joseph W. Lynch, Joseph W. Lynch, Robert J. Harvey, Robert J. Harvey   +10 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

An unusual startling

Indian Journal of Psychological Medicine, 2015
Hyperekplexia is a rare movement disorder, which is mostly of genetic origin; though acquired cases are rarely reported. This disorder is characterized by excessive startling response to external stimuli; this can be disenabling, affecting quality-of ...
Ibrahim Aliyu, Zainab Ibrahim
doaj   +1 more source

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