GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation : a potential neurogenetic pathway to panic disorder [PDF]
, 2017 The molecular genetics of panic disorder (PD) with and without agoraphobia (AG) are still largely unknown and progress is hampered by small sample sizes.
Alpers, Georg +46 more
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A Confusing Coincidence: Neonatal Hypoglycemic Seizures and Hyperekplexia
Case Reports in Medicine, 2014 Hyperekplexia is a rare, nonepileptic, genetic, or sporadic neurologic disorder characterized by startle responses to acoustic, optic, or tactile stimuli.
Nihat Demir +5 more
doaj +1 more source
A novel syndrome of lethal familial hyperekplexia associated with brain malformation
BMC Neurology, 2012 Background Hyperekplexia (HPX) is a rare non-epileptic disorder manifesting immediately after birth with exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, and non-habituating generalized flexor spasm in ...
Seidahmed Mohammed +9 more
doaj +1 more source
Frontiers in Molecular Biosciences, 2022 Pentameric ligand-gated ion channels (PLGICs) are a family of proteins that convert chemical signals into ion fluxes through cellular membranes. Their structures are highly conserved across all kingdoms from bacteria to eukaryotes. Beyond their classical
Anil Ranu Mhashal +2 more
doaj +1 more source
Murine startle mutant Nmf11 affects the structural stability of the glycine receptor and increases deactivation [PDF]
, 2016 Dysfunctional glycinergic inhibitory transmission underlies the debilitating neurological condition, hyperekplexia, which is characterised by exaggerated startle reflexes, muscle hypertonia and apnoea.
Caley, A +4 more
core +1 more source
Clinical and Immunologic Investigations in Patients With Stiff-Person Spectrum Disorder [PDF]
, 2016 Importance: Symptoms of stiff-person syndrome (SPS), stiff-limb syndrome (SLS), or progressive encephalomyelitis with rigidity, myoclonus, or other symptoms (SPS-plus) can occur with several autoantibodies, but the relative frequency of each antibody ...
Ariño, H +13 more
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Analysis of hyperekplexia mutations identifies transmembrane domain rearrangements that mediate glycine receptor activation [PDF]
, 2013 Pentameric ligand-gated ion channels (pLGICs) mediate numerous physiological processes and are therapeutic targets for a wide range of clinical indications. Elucidating the structural differences between their closed and open states may help in designing
Anna Bode +37 more
core +1 more source
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 +11 more
doaj +1 more source
Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia [PDF]
, 2014 "This research was originally published in Journal of Biological Chemistry. Esther Arribas-González, Jaime de Juan-Sanz, Carmen Aragón, and Beatriz López-Corcuera.
Aragón, C. +3 more
core +2 more sources
Startle Responses in Hereditary Hyperekplexia [PDF]
Archives of Neurology, 1997 Patients with hereditary hyperekplexia have excessive startle responses that are accompanied by transient stiffness and also continuous stiffness in infancy. A point of mutation has been identified for the major form of hereditary hyperekplexia in the gene encoding the alpha 1 subunit of the glycine receptor.To measure startle reflexes and autonomic ...
Tijssen, M.A.J. +3 more
openaire +5 more sources