A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.

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

1435-1463

10.1007/s00702-018-1924-y doi


Codon, Nonsense
Female
Humans
Hyperekplexia--genetics
Pedigree
Phenotype
Receptors, Glycine--genetics
Reflex, Startle--genetics
Young Adult