Background: Paroxysmal kinesigenic dyskinesia (PKD) is the most common subtype of paroxysmal dyskinesias and is caused by mutations in PRRT2 gene.
sup] PRRT2 encoding proline-rich transmembrane protein 2 has been identified as a causative gene for PKD by several independent groups.
Of note, PRRT2 mutations were not only implicated in PKD but also identified in other paroxysmal disorders, such as benign familial infantile seizures,[sup], paroxysmal nonkinesigenic dyskinesia (PNKD),[sup], and paroxysmal exertion-induced dyskinesia (PED).
Amino acid and nucleotide changes were identified and numbered corresponding to their position within the PRRT2 mRNA.
In the present study, we screened MR-1 , SLC2A1 , and CLCN1 genes in 28 patients who were diagnosed with sporadic PKD but not carrying PRRT2 mutations.