Patent ID: 8481260

Claim:
A method for determining a human subject's risk for paroxysmal dystonic choreoathetosis comprising providing a sample from a human subject and detecting the presence of one or more human myofibrillogenesis regulator 1 (MR-1) gene sequence variations in the coding sequence of exon 1 of the MR-1 gene in the subject sample, wherein the wild type human MR-1 gene comprises SEQ ID NO: 1, wherein the MR-1 gene sequence variations are selected from the group consisting of a C to T change at position 66 of SEQ ID NO: 1 and a C to T change at position 72 of SEQ ID NO: 1 wherein said detecting occurs with a nucleic acid sequencing assay and wherein the presence of said MR-1 gene sequence variation indicates an increased risk for paroxysmal dystonic choreoathetosis.