The previously identified hyperekplexia mutation GLRA1(P250T), located within the intracellular TM1-2 loop of the GlyR alpha1 subunit, results in altered receptor activation and desensitization.
Different from the dominant trait of clinical hyperekplexia associated with GLRA1 (P250T), wildtype subunits dominated the functional properties of mixed receptor complexes in the recombinant system.