Brune W, Weber RG, Saul B, von Knebel Doeberitz M, Grond-Ginsbach C, Kellerman K, Meinck HM, Becker CM

A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.

Am J Hum Genet 58:989-97 (1996)

Rees MI, Andrew M, Jawad S, Owen MJ

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory  glycine receptor.

Hum Mol Genet 3:2175-9 (1994)
DOI:10.1093/hmg/3.12.2175