Associated Papers
Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report.
Yılmaz FH et al.
Molecular Syndromology, 2025
Startle Disease: New Molecular Insights into an Old Neurological Disorder.
Schaefer N et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2023
A Novel Glycine Receptor Variant with Startle Disease Affects Syndapin I and Glycinergic Inhibition.
Langlhofer G et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2020
Impaired Glycine Receptor Trafficking in Neurological Diseases.
Schaefer N et al.
Frontiers in Molecular Neuroscience, 2018
Clinical and genetic investigation of 17 Japanese patients with hyperekplexia.
Mine J et al.
Developmental Medicine and Child Neurology, 2015
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