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Year Number of Results
1967 1
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1995 3
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1997 4
1998 3
1999 3
2000 4
2001 4
2002 5
2003 3
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150 results

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Page 1
Hyperekplexia and other startle syndromes.
Saini AG, Pandey S. Saini AG, et al. J Neurol Sci. 2020 Sep 15;416:117051. doi: 10.1016/j.jns.2020.117051. Epub 2020 Jul 20. J Neurol Sci. 2020. PMID: 32721683 Review.
Abnormal startle syndromes are classified into hyperekplexia, stimulus-induced, and neuropsychiatric startle syndromes. Hyperekplexia is attributed to a genetic, idiopathic, or symptomatic cause. ...
Abnormal startle syndromes are classified into hyperekplexia, stimulus-induced, and neuropsychiatric startle syndromes. Hyperekple …
Myoclonus.
Espay AJ, Chen R. Espay AJ, et al. Continuum (Minneap Minn). 2013 Oct;19(5 Movement Disorders):1264-86. doi: 10.1212/01.CON.0000436156.54532.1a. Continuum (Minneap Minn). 2013. PMID: 24092290 Review.
Mutations in the glycine receptor (GlyR) alpha1-subunit gene (GLRA1) explain the major expression of hyperekplexia, an inherited excessive startle disorder, butnewly identified mutations in GlyR beta-subunit (GLRB) and glycine transporter 2 (GlyT2) genes (SLC6A5) account f …
Mutations in the glycine receptor (GlyR) alpha1-subunit gene (GLRA1) explain the major expression of hyperekplexia, an inherited exce …
Hyperekplexia: a surprise diagnosis.
Yayıcı Köken Ö, Toptaş Dedeoğlu Ö, Aksoy A, Yüksel D. Yayıcı Köken Ö, et al. Neurol Neurochir Pol. 2020;54(5):473-474. doi: 10.5603/PJNNS.a2020.0057. Epub 2020 Jul 24. Neurol Neurochir Pol. 2020. PMID: 32706098 Free article. No abstract available.
Milestones in clinical neurophysiology.
Hallett M, Rothwell J. Hallett M, et al. Mov Disord. 2011 May;26(6):958-67. doi: 10.1002/mds.23572. Mov Disord. 2011. PMID: 21626542 Free PMC article. Review.
Progress in pathophysiology includes improved knowledge about bradykinesia in Parkinson's disease, loss of inhibition and increased plasticity in dystonia, abnormal startle in hyperekplexia, and various features of psychogenic movement disorders that can aid diagnosis. ...
Progress in pathophysiology includes improved knowledge about bradykinesia in Parkinson's disease, loss of inhibition and increased plastici …
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 …
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 …
Startle and its disorders.
Meinck HM. Meinck HM. Neurophysiol Clin. 2006 Sep-Dec;36(5-6):357-64. doi: 10.1016/j.neucli.2006.12.007. Epub 2007 Jan 26. Neurophysiol Clin. 2006. PMID: 17336782 Review.
The prototype of primary exaggerated startle is hereditary hyperekplexia, a well-studied disorder of the inhibitory glycine receptor and thus of the neuronal Cl- channel. The involuntary jerking in hereditary hyperekplexia is considered a reticular reflex myoclonus. …
The prototype of primary exaggerated startle is hereditary hyperekplexia, a well-studied disorder of the inhibitory glycine receptor …
Myoclonus.
Brown P. Brown P. Curr Opin Neurol. 1996 Aug;9(4):314-6. doi: 10.1097/00019052-199608000-00013. Curr Opin Neurol. 1996. PMID: 8858191 Review.
Several new aetiologies have been described and genetic advances have revealed the basic deficit in familial hyperekplexia....
Several new aetiologies have been described and genetic advances have revealed the basic deficit in familial hyperekplexia....
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 …
Syncopes and other paroxysmal events.
Stephenson JB. Stephenson JB. Handb Clin Neurol. 2013;112:861-6. doi: 10.1016/B978-0-444-52910-7.00007-6. Handb Clin Neurol. 2013. PMID: 23622295 Review.
Syncopes of more serious kind include those in long QT syndrome, hyperekplexia, paroxysmal extreme pain disorder, and congenital myasthenia; each has recognizable characteristics. ...
Syncopes of more serious kind include those in long QT syndrome, hyperekplexia, paroxysmal extreme pain disorder, and congenital myas …
150 results