Four animal models with mutations in the glycine receptor's gene support the importance of this subunit in the pathogenesis of hyperekplexia. Three of these are lines of mutant mice with a recessively inherited
Physical exam signs include upper motor neuron findings, for example, spasticity, hyperreflexia, clonus, and positive Hoffman and Babinski tests. Dermatomal numbness or paresthesias and myotomal weakness can be found with a coexisting radiculopathy.7 In patients with signs and symptoms concerning for...
Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia J. Biol. Chem., 290 (2015), pp. 2150-2165 10.1074/jbc.M114.587055 25480793 CrossrefView in ScopusGoogle Scholar 21. L.M. Elsby, A.J. O’Donnell, L.M. Green, A.D. Sharroc...