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Hyperekplexia: a surprise diagnosis
, 2, 3, 4
Affiliations- Ankara City Hospital, Department of Pediatric Neurology, Children's Hospital, B1, 06080 Ankara, Türkiye
- Mardin State Hospital, Department of Pediatric Neurology, Mardin, 47000, Turkey., 47000 Mardin, Türkiye
- Samsun Ondokuz Mayıs University, Department of Pediatric Neurology, Samsun, 05501 samsun, Türkiye
- University of Health Sciences, Dr. Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Department of Pediatric Neurology, Altındağ, 06041 Ankara, Türkiye
open access
Abstract
Abstract
Keywords
hyperekplexia, SIDS, startle disease
About this articleTitle
Hyperekplexia: a surprise diagnosis
Journal
Neurologia i Neurochirurgia Polska
Issue
Article type
Letter to the Editors
Pages
473-474
Published online
2020-07-24
Page views
823
Article views/downloads
1036
DOI
Pubmed
Bibliographic record
Neurol Neurochir Pol 2020;54(5):473-474.
Keywords
hyperekplexia
SIDS
startle disease
Authors
Özlem Yayıcı Köken
Özge Toptaş Dedeoğlu
Ayşe Aksoy
Deniz Yüksel
References (5)- Suhren O, Bruyn GW, Tuynman JA. Hyperexplexia. Journal of the Neurological Sciences. 1966; 3(6): 577–605.
- 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.
- Harvey RJ, Topf M, Harvey K, et al. The genetics of hyperekplexia: more than startle! Trends Genet. 2008; 24(9): 439–447.
- 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.
- 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.
