Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia

BACKGROUND AND PURPOSE: Hyperekplexia (HPX), a rare neurogenetic disorder, is classically characterized by neonatal hypertonia, exaggerated startle response provoked by the sudden external stimuli and followed by a shortly general stiffness. Glycine receptor alpha 1 (GLRA1) is the major pathogenic g...

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Detalles Bibliográficos
Autores principales: Zhan, Feixia, Zhang, Chao, Wang, Shige, Zhu, Zeyu, Chen, Guang, Zhao, Mingliang, Cao, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Neurological Association 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174104/
https://www.ncbi.nlm.nih.gov/pubmed/32319239
http://dx.doi.org/10.3988/jcn.2020.16.2.230

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174104/
https://www.ncbi.nlm.nih.gov/pubmed/32319239
http://dx.doi.org/10.3988/jcn.2020.16.2.230

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