{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T04:04:33Z","timestamp":1789704273110,"version":"4.0.1"},"reference-count":31,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Movement disorders (MDs) often remain underexplored in genetic developmental and epileptic encephalopathies (DEEs), largely due to limited awareness, phenotypic heterogeneity and the considerable burden of drug\u2010resistant epilepsy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>This study aimed to characterize the etiological profile of genetic DEEs with coexisting MDs, delineate the spectrum of MDs and explore associations between movement disorder phenomenology and underlying genetic variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A single\u2010center cross\u2010sectional observational study was conducted over 1\u2009year (Jan 2024\u2013Jan 2025) at a tertiary referral center in North India. Children aged 0 to 18\u2009years with genetic DEEs and coexistent MDs were included. Clinical data, including seizure and MD videos, neuroimaging\/ EEG findings and genetic reports were analyzed. Ethical approval was obtained from the Institutional Ethics Committee.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Thirty\u2010two children were enrolled (53% being boys) with a median age at enrolment of 4.15\u2009years (IQR: 3\u20135.1\u2009years). The majority (47%) had infantile\/late\u2010infantile\u2010onset DEE, followed by childhood\u2010onset DEE in 37.5%, while only five had early infantile\u2010onset DEE.\n                      <jats:italic>STXBP1<\/jats:italic>\n                      (9%) was the most frequently affected single gene, while ion channel genes (sodium\/potassium) represented the most affected neurobiological pathway (19%). The most prevalent MDs were stereotypies (44%), followed by dystonia (37.5%), ataxia (28%), myoclonus (22%), chorea (16%), tremor (6%) and Parkinsonism (3%); mixed phenomenology was observed in 44%. The majority (84.5%) presented with chronic, persistent MDs, while paroxysmal MDs were observed with\n                      <jats:italic>ATP1A3<\/jats:italic>\n                      ,\n                      <jats:italic>SCN2A<\/jats:italic>\n                      ,\n                      <jats:italic>UFC1<\/jats:italic>\n                      ,\n                      <jats:italic>GNB1<\/jats:italic>\n                      and\n                      <jats:italic>GNB5<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Enhancing clinical awareness, accurately characterizing phenomenology and understanding genetic underpinnings are essential for a focused diagnostic approach in these complex overlap syndromes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70501","type":"journal-article","created":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T12:44:56Z","timestamp":1767789896000},"page":"1452-1467","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The Spectrum of Movement Disorders in Children with Genetic Developmental and Epileptic Encephalopathies: A Cross\u2010Sectional Observational Study"],"prefix":"10.1002","volume":"13","author":[{"given":"Bhavya","family":"Kansal","sequence":"first","affiliation":[{"name":"Department of Paediatrics Lady Hardinge Medical College and Kalawati Saran Children's Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayoni","family":"Roy Chowdhury","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Lady Hardinge Medical College and Kalawati Saran Children's Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5098-3311","authenticated-orcid":false,"given":"Jacky","family":"Ganguly","sequence":"additional","affiliation":[{"name":"Movement Disorder Centre Institute of Neurosciences  Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ritika","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Lady Hardinge Medical College and Kalawati Saran Children's Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harish Kumar","family":"Pemde","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Lady Hardinge Medical College and Kalawati Saran Children's Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suvasini","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Lady Hardinge Medical College and Kalawati Saran Children's Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26901"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2018-320039"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14407"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.18265"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaf297"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000265"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000207808"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.855134"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2021.08.007"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.743726"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000200341"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004331"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2014.0649"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.4103\/aian.aian_1080_23"},{"key":"e_1_2_10_16_1","unstructured":"Sunflower syndrome: a poorly understood photosensitive epilepsy \u2013 PubMed; 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