Results 91 to 100 of about 2,568 (202)

A case report of rigidity and recurrent lower limb myoclonus: progressive encephalomyelitis rigidity and myoclonus syndrome, a chameleon

BMC Neurology, 2018
Background Progressive encephalomyelitis with rigidity and myoclonus (PERM) syndrome is a rare neurological condition. Its clinical characteristics include axial and limb muscle rigidity, myoclonus, painful spasms and hyperekplexia.
Aurélie Degeneffe, Marie Dagonnier, Alain D’hondt, Jose Antonio Elosegi   +3 more
doaj   +1 more source

Individual knock out of glycine receptor alpha subunits identifies a specific requirement of glra1 for motor function in zebrafish.

PLoS ONE, 2019
Glycine receptors (GlyRs) are ligand-gated chloride channels mediating inhibitory neurotransmission in the brain stem and spinal cord. They function as pentamers composed of alpha and beta subunits for which 5 genes have been identified in human (GLRA1 ...
Eric Samarut, Domitille Chalopin, Raphaëlle Riché, Marc Allard, Meijiang Liao, Pierre Drapeau   +5 more
doaj   +1 more source

Openings of the rat recombinant alpha1 homomeric glycine receptor as a function of the number of sgonist molecules bound [PDF]

, 2002
The functional properties of rat homomeric {alpha}1 glycine receptors were investigated using whole-cell and outside-out recording from human embryonic kidney cells transfected with rat {alpha}1 subunit cDNA.
Beato, M., Colquhoun, D., Groot-Kormelink, P.J., Sivilotti, L.G.   +3 more
core  

Hyperekplexia: a surprise diagnosis

Neurologia i Neurochirurgia Polska, 2020
Özlem, Yayıcı Köken, Özge, Toptaş Dedeoğlu, Ayşe, Aksoy, Deniz, Yüksel   +3 more
openaire   +3 more sources

Symptomatic hyperekplexia: an important clue to neurodegeneration in children. [PDF]

BMJ Case Rep, 2023
Banyal P, Arora M, Saini AG.
europepmc   +1 more source

The activation mechanism of alpha 1 homomeric glycine receptors [PDF]

, 2004
The glycine receptor mediates fast synaptic inhibition in the spinal cord and brainstem. Its activation mechanism is not known, despite the physiological importance of this receptor and the fact that it can serve as a prototype for other homopentameric ...
Beato, M, Colquhoun, D, Groot-Kormelink, PJ, Sivilotti, LG   +3 more
core  

Treatment of startle and related disorders. [PDF]

Clin Park Relat Disord, 2023
Lim TT, Por CY, Beh YY, Schee JP, Tan AH.   +4 more
europepmc   +1 more source

Single-channel behavior of heteromeric α1β glycine receptors: an attempt to detect a conformational change before the channel opens [PDF]

, 2004
The α1β heteromeric receptors are likely to be the predominant synaptic form of glycine receptors in the adult. Their activation mechanism was investigated by fitting putative mechanisms to single-channel recordings obtained at four glycine ...
Beato, M., Burzomato, V., Colquhoun, D., Groot-Kormelink, P.J., Sivilotti, L.G.   +4 more
core  

Startle disease-two sibling cases

The Turkish Journal of Pediatrics, 2005
Startle disease (hyperekplexia) is a rare non-epileptic disorder characterized by hypertonia, generalized stiffness and brief muscle jerks in response to unexpected auditory, somatosensory and visual stimuli.
Mürüvet Elkay, Faruk Incecik, M Ozlem Hergüner, Göksel Leblebisatan, Sakir Altunbaşak   +4 more
doaj  

Hyperekplexia: A Treatable Seizure Mimicker in Infants. [PDF]

Cureus, 2023
Dudipala SC, Reddy RV, Shankar R.
europepmc   +1 more source