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Neurol."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder characterized by recurrent involuntary movements usually triggered by sudden movements. Mutations in the\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      gene were found to be the causative factor of PKD in recent studies. It has also been revealed that loss-of-function is the mechanism by which\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      mutations cause PKD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      To investigate the genetic basis of PKD and broaden the clinical spectrum of the\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      mutations, we recruited 181 patients of Chinese origin with movement disorders (MDs), including 39\n                      <jats:italic>PRRT2<\/jats:italic>\n                      -negative PKD, 3 paroxysmal exercise-induced dyskinesia (PED), 2 paroxysmal non-kinesigenic dyskinesia (PNKD), 127 isolated dystonia, 8 choreas, and 2 myoclonus-dystonia syndromes. Whole-exome sequencing was applied to identify their possible disease-causing mutations. Then, Sanger sequencing was performed for validation and co-segregation analysis. Genetic analysis was also performed on additional family members of patients with\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      mutations. Clinical manifestations of all PKD cases with mutations in\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      reported, so far, were reviewed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Two novel variants of the\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      gene (NM_153266.4, NP_694998.1), c.627_643dup (p.A215Gfs\n                      <jats:sup>*<\/jats:sup>\n                      53) and c.627delG (p.L210Wfs\n                      <jats:sup>*<\/jats:sup>\n                      52), were identified in 2 patients with PKD by whole-exome sequencing and further Sanger sequencing. Both variants were inherited by the patients from their respective mothers. No mutation of the\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      gene was found in the other type of movement disorders. In reviewing the clinical presentation of\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      -related PKD, no statistically significant difference in the age of onset, family history, duration of attacks, laterality, and phenotype was found between genders. More male patients received treatment and had a good response. A higher proportion of female patients did not receive any treatment, possibly because they had a milder condition of the disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This study further validated the role of\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      in PKD. Future studies on protein function will be needed to ascertain the pathogenesis of\n                      <jats:italic>TMEM151A<\/jats:italic>\n                      in PKD.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fneur.2022.865690","type":"journal-article","created":{"date-parts":[[2022,5,30]],"date-time":"2022-05-30T02:32:05Z","timestamp":1653877925000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["Screening of the TMEM151A Gene in Patients With Paroxysmal Kinesigenic Dyskinesia and Other Movement 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