A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-017-0476-6.pdf
Reference23 articles.
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2. Shiang R, Ryan SG, Zhu YZ, Hahn AF, O'Connell P, Wasmuth JJ. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet. 1993;5:351–8.
3. Al-Owain M, Colak D, Al-Bakheet A, Al-Hashmi N, Shuaib T, Al-Hemidan A, et al. Novel mutation in GLRB in a large family with hereditary hyperekplexia. Clin Genet. 2012;81:479–4.
4. Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, et al. GLRB is the third major gene of effect in hyperekplexia. Hum Mol Genet. 2013;22:927–40.
5. James VM, Bode A, Chung SK, Gill JL, Nielsen M, Cowan FM, et al. Novel missense mutations in the glycine receptor beta subunit gene (GLRB) in startle disease. Neurobiol Dis. 2013;52:137–49.
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1. Towards Zebrafish Models of CNS Channelopathies;International Journal of Molecular Sciences;2022-11-12
2. C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia;Medicine;2020-04
3. Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia;Journal of Clinical Neurology;2020
4. Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report;BMC Medical Genetics;2019-03-12
5. A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia;Journal of Neural Transmission;2018-09-04
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