Mutations in GLRA2 gene cause abnormal function of the GLRA2 protein. Usually, important amino acids (building blocks of the protein) are replaced, leading to either loss of the normal protein function (loss of function mutations), or abnormally increased function of the protein (gain of function mutations). Mutations can be inherited from the mother (who may or may not have the diagnosis) or can be a new change (also called de novo) with no prior family history.
GLRA2