C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report

INTRODUCTION: Hyperekplexia is a rare hereditary neurological disorder; only 5 glycine receptor alpha 1 subunit gene (GLRA1) mutations have been reported in 5 Chinese patients. We report a Chinese infant with hyperekplexia and a novel mutation at c.292G > A. PATIENT CONCERNS: A Chinese infant wit...

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Bibliographic Details
Published in:Medicine (Baltimore)
Main Authors: Zhang, Yan, Wu, Ling-Ling, Zheng, Xiao-Lan, Lin, Cai-Mei
Format: Artigo
Language:Inglês
Published: Wolters Kluwer Health 2020
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3500
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7220787/
https://ncbi.nlm.nih.gov/pubmed/32332682
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000019968
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