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However, heterozygous variants can also be found in unaffected individuals. Biallelic\n                      <jats:italic>CNTNAP2<\/jats:italic>\n                      variants are rarer and cause a well-defined genetic syndrome known as CASPR2 deficiency disorder, a condition characterised by ID, early-onset refractory epilepsy, language impairment, and autistic features.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case-report<\/jats:title>\n                    <jats:p>\n                      A 7-year-old boy presented with hyperkinetic stereotyped movements that started during early infancy and persisted over childhood. Abnormal movements consisted of rhythmic and repetitive shaking of the four limbs, with evident stereotypic features. Additional clinical features included ID, attention deficit-hyperactivity disorder (ADHD), ASD, and speech impairment, consistent with CASPR2 deficiency disorder. Whole-genome array comparative genomic hybridization detected a maternally inherited 0.402\u2009Mb duplication, which involved intron 1, exon 2, and intron 2 of\n                      <jats:italic>CNTNAP2<\/jats:italic>\n                      (c.97\u2009+?_209-?dup). The affected region in intron 1 contains a binding site for the transcription factor FOXP2, potentially leading to abnormal\n                      <jats:italic>CNTNAP2<\/jats:italic>\n                      expression regulation. Sanger sequencing of the coding region of\n                      <jats:italic>CNTNAP2<\/jats:italic>\n                      also identified a paternally-inherited missense variant c.2752C\u2009&gt;\u2009T, p.(Leu918Phe).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This case expands the molecular and phenotypic spectrum of CASPR2 deficiency disorder, suggesting that Hyperkinetic stereotyped movements may be a rare, yet significant, clinical feature of this complex neurological disorder. Furthermore, the identification of an in-frame, largely non-coding duplication in\n                      <jats:italic>CNTNAP2<\/jats:italic>\n                      points to a sophisticated underlying molecular mechanism, likely involving impaired FOXP2 binding.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13052-021-01162-w","type":"journal-article","created":{"date-parts":[[2021,10,12]],"date-time":"2021-10-12T18:08:29Z","timestamp":1634062109000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants"],"prefix":"10.1186","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2194-7239","authenticated-orcid":false,"given":"Marcello","family":"Scala","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Midas","family":"Anijs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Battini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Madia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Capra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Scudieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Verrotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Minetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja C.","family":"Vernes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,10,12]]},"reference":[{"issue":"1","key":"1162_CR1","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1186\/s12881-016-0272-8","volume":"17","author":"P Rodenas-Cuadrado","year":"2016","unstructured":"Rodenas-Cuadrado P, Pietrafusa N, Francavilla T, La Neve A, Striano P, Vernes SC. 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