Associated Papers
STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia.
Pina D et al.
Movement Disorders Clinical Practice, 2025
40192101 (PubMed )
Supplement: MDC3-12-1367-s001.docx
Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia.
Zhan F et al.
Journal of Clinical Neurology (seoul, Korea), 2020
A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.
Milenkovic I et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2018
A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature.
Yang Z et al.
Bmc Medical Genetics, 2017
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