Milenkovic, Ivan A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia. [electronic resource] - Journal of neural transmission (Vienna, Austria : 1996) 12 2018 - 1877-1883 p. digital Publication Type: Case Reports; Journal Article ISSN: 1435-1463 Standard No.: 10.1007/s00702-018-1924-y doi Subjects--Topical Terms: Codon, NonsenseFemaleHumansHyperekplexia--geneticsPedigreePhenotypeReceptors, Glycine--geneticsReflex, Startle--geneticsYoung Adult