hyperekplexia/proline

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A novel glycine receptor variant with startle disease affects syndapin I and glycinergic inhibition.

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Glycine receptors (GlyRs) are the major mediators of fast synaptic inhibition in the adult human spinal cord and brain stem. Hereditary mutations to GlyRs can lead to the rare, but potentially fatal neuromotor disorder, hyperekplexia. Most mutations located in the large intracellular domain (TM3-4

Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating.

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Missense mutations as well as a null allele of the human glycine receptor alpha1 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

The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia.

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Glycine transporter 2 (GlyT2) mutations across the entire sequence have been shown to represent the presynaptic component of the neurological disease hyperekplexia. Dominant, recessive and compound heterozygous mutations have been identified, most of them leading to impaired glycine uptake. Here, we

A Missense Mutation A384P Associated with Human Hyperekplexia Reveals a Desensitization Site of Glycine Receptors.

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Hyperekplexia, an inherited neuronal disorder characterized by exaggerated startle responses with unexpected sensory stimuli, is caused by dysfunction of glycinergic inhibitory transmission. From analysis of newly identified human hyperekplexia mutations in the glycine receptor (GlyR) α1 subunit, we

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