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48 results

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Page 1
Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology.
Balint B, Vincent A, Meinck HM, Irani SR, Bhatia KP. Balint B, et al. Brain. 2018 Jan 1;141(1):13-36. doi: 10.1093/brain/awx189. Brain. 2018. PMID: 29053777 Free PMC article. Review.
Moreover, we elaborate the emerging pathophysiological parallels between genetic movement disorders and immunological conditions, with proteins being either affected by mutations or targeted by autoantibodies. Hereditary hyperekplexia, for example, is caused by mutations o …
Moreover, we elaborate the emerging pathophysiological parallels between genetic movement disorders and immunological conditions, with prote …
Advances in hyperekplexia and other startle syndromes.
Zhan FX, Wang SG, Cao L. Zhan FX, et al. Neurol Sci. 2021 Oct;42(10):4095-4107. doi: 10.1007/s10072-021-05493-8. Epub 2021 Aug 11. Neurol Sci. 2021. PMID: 34379238 Review.
Hyperekplexia can be attributed to a genetic, idiopathic, or symptomatic cause. ...Clonazepam, which can specifically upgrade the GABARA1 chloride channels, is the main and most effective administration for hereditary hyperekplexia patients. In this review, with the …
Hyperekplexia can be attributed to a genetic, idiopathic, or symptomatic cause. ...Clonazepam, which can specifically upgrade the GAB …
Exaggerated startle reactions.
Dreissen YE, Bakker MJ, Koelman JH, Tijssen MA. Dreissen YE, et al. Clin Neurophysiol. 2012 Jan;123(1):34-44. doi: 10.1016/j.clinph.2011.09.022. Epub 2011 Oct 26. Clin Neurophysiol. 2012. PMID: 22033030 Review.
Clinically, syndromes with hyperstartling as common feature can be divided into three groups: hyperekplexia, stimulus-induced disorders, and neuropsychiatric disorders. ...Polymyographic EMG startle recordings exhibit an exaggeration of the initial motor startle reflex in …
Clinically, syndromes with hyperstartling as common feature can be divided into three groups: hyperekplexia, stimulus-induced disorde …
Startle syndromes.
Bhidayasiri R, Truong DD. Bhidayasiri R, et al. Handb Clin Neurol. 2011;100:421-30. doi: 10.1016/B978-0-444-52014-2.00032-X. Handb Clin Neurol. 2011. PMID: 21496599
While startle can be considered to be a protective function against injury, startle syndromes are abnormal responses to startling events, consisting of three heterogeneous groups of disorders. The first is hyperekplexia, characterized by brisk and generalized startle in re …
While startle can be considered to be a protective function against injury, startle syndromes are abnormal responses to startling events, co …
Hereditary Hyperekplexia in Saudi Arabia.
Aldhilan A, Alhakeem A, Al Hajjaj S, Abukhalid M, Aldhalaan H, Salah E, Saeed M, Tabassum S, El Khashab HY, Aljabri M, Ali ES, Alwadei A, Hundallah K, Alghamdi A, Hakami W, AlShafi S, Alkuraya FS, Alanazy N, Seidahmed MZ, Alfadhel M, Tabarki B. Aldhilan A, et al. Pediatr Neurol. 2022 Sep;134:78-82. doi: 10.1016/j.pediatrneurol.2022.06.015. Epub 2022 Jun 24. Pediatr Neurol. 2022. PMID: 35841715
BACKGROUND: Hyperekplexia is a rare disorder characterized by exaggerated startle responses to unexpected sensory stimuli, recurrent apneas, and stiffness. ...CONCLUSION: Our study provides comprehensive epidemiologic information, prevalence figures, and clinical character …
BACKGROUND: Hyperekplexia is a rare disorder characterized by exaggerated startle responses to unexpected sensory stimuli, recurrent …
Myoclonus and epilepsies.
Fejerman N. Fejerman N. Indian J Pediatr. 1997 Sep-Oct;64(5):583-602. doi: 10.1007/BF02726110. Indian J Pediatr. 1997. PMID: 10771893 Review.
Characteristics of group 2 are "Kinsbourne Syndrome" and certain types of "Hyperekplexia" which pose interesting differential diagnosis with stimulus-sensitive epilepsies. ...
Characteristics of group 2 are "Kinsbourne Syndrome" and certain types of "Hyperekplexia" which pose interesting differential diagnos …
The startle syndromes: physiology and treatment.
Dreissen YE, Tijssen MA. Dreissen YE, et al. Epilepsia. 2012 Dec;53 Suppl 7:3-11. doi: 10.1111/j.1528-1167.2012.03709.x. Epilepsia. 2012. PMID: 23153204 Free article. Review.
Startle syndromes form a heterogeneous group of disorders with three categories: hyperekplexia (HPX), stimulus-induced disorders, and neuropsychiatric syndromes. ...
Startle syndromes form a heterogeneous group of disorders with three categories: hyperekplexia (HPX), stimulus-induced disorders, and …
Startle syndromes.
Bakker MJ, van Dijk JG, van den Maagdenberg AM, Tijssen MA. Bakker MJ, et al. Lancet Neurol. 2006 Jun;5(6):513-24. doi: 10.1016/S1474-4422(06)70470-7. Lancet Neurol. 2006. PMID: 16713923 Review.
Startle syndromes consist of three heterogeneous groups of disorders with abnormal responses to startling events. The first is hyperekplexia, which can be split up into the "major" or "minor" form. The major form of hyperekplexia is characterised by excessive startl …
Startle syndromes consist of three heterogeneous groups of disorders with abnormal responses to startling events. The first is hyperekple …
Mutations affecting glycinergic neurotransmission in hyperekplexia increase pain sensitivity.
Vuilleumier PH, Fritsche R, Schliessbach J, Schmitt B, Arendt-Nielsen L, Zeilhofer HU, Curatolo M. Vuilleumier PH, et al. Brain. 2018 Jan 1;141(1):63-71. doi: 10.1093/brain/awx289. Brain. 2018. PMID: 29149236 Free article.
Seven patients with genetically and clinically confirmed hyperekplexia were compared to 14 healthy age- and sex-matched controls. ...Conditioned pain modulation was significantly reduced in hyperekplexia [increase to baseline: 53.2 (63.7) versus 105 (57) kPa, P = 0. …
Seven patients with genetically and clinically confirmed hyperekplexia were compared to 14 healthy age- and sex-matched controls. ... …
Paroxysmal nonepileptic events in infancy, childhood, and adolescence.
Luat AF, Kamat D, Sivaswamy L. Luat AF, et al. Pediatr Ann. 2015 Feb;44(2):e18-23. doi: 10.3928/00904481-20150203-07. Pediatr Ann. 2015. PMID: 25658214 Review.
In infants and toddlers, conditions that are relatively common in clinical practice such as apnea, jitteriness, shuddering attacks, and breath-holding spells may not present much of a diagnostic conundrum, whereas unusual conditions such as hyperekplexia may cause concern. …
In infants and toddlers, conditions that are relatively common in clinical practice such as apnea, jitteriness, shuddering attacks, and brea …
48 results