Vol 54, No 5 (2020)
Letter to the Editors
Published online: 2020-07-24
Hyperekplexia: a surprise diagnosis
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Abstract
Not available
Keywords: hyperekplexiaSIDSstartle disease
References
- 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.
