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
Hyperekplexia: A Single-Center Experience.
Dolu MH et al.
Journal of Child Neurology, 2024
An Adult Case of Genetically Confirmed Hyperekplexia Presenting with Head Trauma.
Baba N et al.
Nmc Case Report Journal, 2024
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36993157 (PubMed )
Supplement: media-2.xlsx › eTable_5
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
GLRA1 mutation and long-term follow-up of the first hyperekplexia family.
Paucar M et al.
Neurology. Genetics, 2018
[A pedigree of hereditary hyperekplexia].
Moriyoshi H et al.
Rinsho Shinkeigaku = Clinical Neurology, 2018
Familial Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes
Lee Y et al.
Journal of Movement Disorders, 2017
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