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The objective of our study is to investigate the genetic etiology of a cohort of paediatric patients with movement disorders by whole exome sequencing and to review the potential treatment implications after a genetic diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We studied a cohort of 31 patients who have paediatric-onset movement disorders with unrevealing etiologies. Whole exome sequencing was performed and rare variants were interrogated for pathogenicity. Genetic diagnoses have been confirmed in 10 patients with disease-causing variants in\n                      <jats:italic>CTNNB1<\/jats:italic>\n                      ,\n                      <jats:italic>SPAST<\/jats:italic>\n                      ,\n                      <jats:italic>ATP1A3<\/jats:italic>\n                      ,\n                      <jats:italic>PURA<\/jats:italic>\n                      ,\n                      <jats:italic>SLC2A1<\/jats:italic>\n                      ,\n                      <jats:italic>KMT2B<\/jats:italic>\n                      ,\n                      <jats:italic>ACTB<\/jats:italic>\n                      ,\n                      <jats:italic>GNAO1<\/jats:italic>\n                      and\n                      <jats:italic>SPG11.<\/jats:italic>\n                      80% (8\/10) of patients with genetic diagnosis have potential treatment implications and treatments have been offered to them. One patient with\n                      <jats:italic>KMT2B<\/jats:italic>\n                      dystonia showed clinical improvement with decrease in dystonia after receiving globus pallidus interna deep brain stimulation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>A diagnostic yield of 32% (10\/31) was reported in our cohort and this allows a better prediction of prognosis and contributes to a more effective clinical management. The study highlights the potential of implementing precision medicine in the patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-021-01688-6","type":"journal-article","created":{"date-parts":[[2021,1,14]],"date-time":"2021-01-14T22:02:42Z","timestamp":1610661762000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Exome sequencing in paediatric patients with movement disorders"],"prefix":"10.1186","volume":"16","author":[{"given":"Anna Ka-Yee","family":"Kwong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mandy Ho-Yin","family":"Tsang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmine Lee-Fong","family":"Fung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher Chun-Yu","family":"Mak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate Lok-San","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J. 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Nos.: UW 11-190 and UW 12-221). Written informed consent was obtained from the patients and\/or parents.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Consent was obtained from all patients for publication.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Anna Ka-Yee KWONG, Mandy Ho-Yin TSANG, Jasmine Lee-Fung FUNG, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J.T. RODENBURG, Monkol LEK, Shushu HUANG, Sander PAJUSALU, Man-Mut YAU, Cheung TSOI, Sharon FUNG, Kam-Tim LIU, Che-Kwan MA, Sheila Wong, Eric Kin-Cheong YAU, Shuk-Mui TAI, Eva Lai-Wah FUNG, Nick Shun-Ping WU, Li-Yan TSUNG, Brian Hon-Yin CHUNG, Cheuk-Wing FUNG report no conflict of interest. Jan SMEITINK is the CEO of Khondrion, a pharmaceutical company developing compounds to potentially treat mitochondrial disease.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"32"}}