Associated Papers
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.
Bylstra Y et al.
European Journal of Human Genetics : Ejhg, 2026
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
Clinical and genetic investigation of 17 Japanese patients with hyperekplexia.
Mine J et al.
Developmental Medicine and Child Neurology, 2015
The impact of human hyperekplexia mutations on glycine receptor structure and function.
Bode A et al.
Molecular Brain, 2014
A 14-year-old girl with hyperekplexia having GLRB mutations.
Mine J et al.
Brain & Development, 2013
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