Skip to search formSkip to main contentSkip to account menu

Familial Hyperekplexia

Known as: Familial Hyperekplexias, Hyperekplexia, Familial, Hyperekplexias, Familial 
National Institutes of Health

Related topics

Related topics

1 relation

Broader (1)

Stiff-Person Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
The GLRA1 Missense Mutation W170S Associates Lack of Zn2+ Potentiation with Human Hyperekplexia
Hyperekplexia is a neurological disorder associated primarily with mutations in the α1 subunit of glycine receptors (GlyRs) that… 
2012
2012
A novel syndrome of lethal familial hyperekplexia associated with brain malformation
BackgroundHyperekplexia (HPX) is a rare non-epileptic disorder manifesting immediately after birth with exaggerated persistent… 
Highly Cited
2004
Highly Cited
2004
Hyperekplexia and stiff-man syndrome: abnormal brainstem reflexes suggest a physiological relationship
Background and objectives: Hyperekplexia and the stiff-man syndrome (SMS) are both conditions with exaggerated startle suggesting… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)