open access

Ahead of print
Letter to the Editors
Published online: 2020-07-24
Submitted: 2020-05-19
Accepted: 2020-07-22
Get Citation

Hyperekplexia: a surprise diagnosis

Özlem Yayıcı Köken, Özge Toptaş Dedeoğlu, Ayşe Aksoy, Deniz Yüksel
DOI: 10.5603/PJNNS.a2020.0057
·
Pubmed: 32706098

open access

Ahead of print
Letter to the Editors
Published online: 2020-07-24
Submitted: 2020-05-19
Accepted: 2020-07-22

Abstract

Not available

Abstract

Not available
Get Citation

Keywords

hyperekplexia, SIDS, startle disease

About this article
Title

Hyperekplexia: a surprise diagnosis

Journal

Neurologia i Neurochirurgia Polska

Issue

Ahead of print

Published online

2020-07-24

DOI

10.5603/PJNNS.a2020.0057

Pubmed

32706098

Keywords

hyperekplexia
SIDS
startle disease

Authors

Özlem Yayıcı Köken
Özge Toptaş Dedeoğlu
Ayşe Aksoy
Deniz Yüksel

References (5)
  1. Suhren O, Bruyn GW, Tuynman JA. Hyperexplexia. Journal of the Neurological Sciences. 1966; 3(6): 577–605.
  2. Davies JS, Chung SK, Thomas RH, et al. The glycinergic system in human startle disease: a genetic screening approach. Front Mol Neurosci. 2010; 3: 8.
  3. Harvey RJ, Topf M, Harvey K, et al. The genetics of hyperekplexia: more than startle! Trends Genet. 2008; 24(9): 439–447.
  4. Shiang R, Ryan SG, Zhu YZ, et al. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet. 1993; 5(4): 351–358.
  5. Thomas RH, Chung SK, Wood SE, et al. Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay. Brain. 2013; 136(Pt 10): 3085–3095.

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