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A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature
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 domain (TM...
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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5631533/ https://ncbi.nlm.nih.gov/pubmed/28985719 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0476-6 |
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