Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and
a Systematic Review of Phenotypes
Yoonju Lee, Nan Young Kim, Sangkyoon Hong, Su Jin Chung, Seong Ho Jeong, Phil Hyu Lee, Young H. Sohn
JMD. 2017;10(1):53-58. Published online 2016 Dec 27 DOI: https://doi.org/10.14802/jmd.16044
Citations to this article as recorded by 
A Case of Hyperekplexia That Started From Childhood: Clinical Diagnosis With Negative Genetic Investigations
Annibale Antonioni, Giovanni Peschi, Enrico Granieri
Frontiers in Neurology.2020;[Epub] CrossRef
Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia
Feixia Zhan, Chao Zhang, Shige Wang, Zeyu Zhu, Guang Chen, Mingliang Zhao, Li Cao
Journal of Clinical Neurology.2020; 16(2): 230. CrossRef
C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia
Yan Zhang, Ling-Ling Wu, Xiao-Lan Zheng, Cai-Mei Lin
Medicine.2020; 99(17): e19968. CrossRef
Hyperekplexia and other startle syndromes
Arushi Gahlot Saini, Sanjay Pandey
Journal of the Neurological Sciences.2020; 416: 117051. CrossRef
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
Teresa Sprovieri, Carmine Ungaro, Serena Sivo, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Luigi Citrigno, Maria Muglia, Francesca Cavalcanti, Sebastiano Cavallaro, Eugenio Mercuri, Domenica Battaglia
BMC Medical Genetics.2019;[Epub] CrossRef
Weird Laughing in Hyperekplexia: A new phenotype associated with a novel mutation in the GLRA1 gene?
Zhi Huang, Yajun Lian, Hongliang Xu, Haifeng Zhang
Seizure.2018; 58: 6. CrossRef
A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature
Zhiliang Yang, Guilian Sun, Fang Yao, Dongying Tao, Binlu Zhu
BMC Medical Genetics.2017;[Epub] CrossRef