Novel GLRA1 Missense Mutation (P250T) in Dominant Hyperekplexia Defines an Intracellular Determinant of Glycine Receptor Channel Gating

Missense mutations as well as a null allele of the human glycine receptor α1 subunit gene GLRA1 result in the neurological disorder hyperekplexia [startle disease, stiff baby syndrome, Mendelian Inheritance in Man (MIM) #149400]. In a pedigree showing dominant transmission of hyperekplexia, we ident...

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Bibliographic Details
Published in:J Neurosci
Main Authors: Saul, Brigitta, Kuner, Thomas, Sobetzko, Diana, Brune, Wolfram, Hanefeld, Folker, Meinck, Hans-Michael, Becker, Cord-Michael
Format: Artigo
Language:Inglês
Published: Society for Neuroscience 1999
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6782149/
https://ncbi.nlm.nih.gov/pubmed/9920650
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.19-03-00869.1999
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