Literature DB >> 32332042

Approach to exaggerated startle reflex: a case of hyperekplexia minor.

Haris Hakeem1, Ramsha Khurshid2, Fowzia Siddiqui3, Danish Ejaz Bhatti4.   

Abstract

A broad set of conditions may present with an exaggerated startle reflex in clinics. This, combined with the overall rarity of these disorders, may pose diagnostic uncertainty in the mind of the treating physician. Herein, we report a case of a patient who presented to us with the complaint of exaggerated startle reflex and outline a simple approach towards characterisation of these disorders. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.

Entities:  

Keywords:  clinical neurophysiology; movement disorders (other than Parkinsons)

Mesh：

Substances：

Year:  2020        PMID： 32332042      PMCID： PMC7202748          DOI： 10.1136/bcr-2019-232370

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  12 in total

1.  Diagnosis and treatment of paroxysmal dyskinesias revisited.

Authors:  Iris Unterberger; Eugen Trinka
Journal:  Ther Adv Neurol Disord       Date:  2008-09       Impact factor: 6.570

2.  Clonazepam is an effective treatment for hyperekplexia due to a SLC6A5 (GlyT2) mutation.

Authors:  Mirte J Bakker; Els A J Peeters; Marina A J Tijssen
Journal:  Mov Disord       Date:  2009-09-15       Impact factor: 10.338

Review 3.  Exaggerated startle reactions.

Authors:  Yasmine E M Dreissen; Mirte J Bakker; Johannes H T M Koelman; Marina A J Tijssen
Journal:  Clin Neurophysiol       Date:  2011-10-26       Impact factor: 3.708

Review 4.  Jumping Frenchmen, Miryachit, and Latah: Culture-Specific Hyperstartle-Plus Syndromes.

Authors:  Douglas J Lanska
Journal:  Front Neurol Neurosci       Date:  2017-11-17

Review 5.  Hyperekplexia: a treatable neurogenetic disease.

Authors:  Lan Zhou; Kipp L Chillag; Michael A Nigro
Journal:  Brain Dev       Date:  2002-10       Impact factor: 1.961

Review 6.  Startle syndromes.

Authors:  Mirte J Bakker; J Gert van Dijk; Arn M J M van den Maagdenberg; Marina A J Tijssen
Journal:  Lancet Neurol       Date:  2006-06       Impact factor: 44.182

Review 7.  The startle syndromes: physiology and treatment.

Authors:  Yasmine E M Dreissen; Marina A J Tijssen
Journal:  Epilepsia       Date:  2012-12       Impact factor: 5.864

Review 8.  The genetics of hyperekplexia: more than startle!

Authors:  Robert J Harvey; Maya Topf; Kirsten Harvey; Mark I Rees
Journal:  Trends Genet       Date:  2008-08-15       Impact factor: 11.639

Review 9.  Native glycine receptor subtypes and their physiological roles.

Authors:  Joseph W Lynch
Journal:  Neuropharmacology       Date:  2008-08-03       Impact factor: 5.250

Review 10.  Episodic Ataxias: Clinical and Genetic Features.

Authors:  Kwang-Dong Choi; Jae-Hwan Choi
Journal:  J Mov Disord       Date:  2016-09-21
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