A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature

A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature

Abstract Background The pathogenesis of hereditary hyperekplexia is thought to involve abnormalities in the glycinergic neurotransmission system, the most of mutations reported in GLRA1. This gene encodes the glycine receptor α1 subunit, which has an extracellular domain (ECD) and a transmembrane do...

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Bibliographic Details
Main Authors: Zhiliang Yang, Guilian Sun, Fang Yao, Dongying Tao, Binlu Zhu
Format: Article
Language:English
Published: BMC 2017-10-01
Series:BMC Medical Genetics
Subjects:
Hyperekplexia
Startle disease
GLRA1
Phenotype
Online Access:http://link.springer.com/article/10.1186/s12881-017-0476-6

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