{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T04:16:39Z","timestamp":1791951399884,"version":"4.3.4"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,7,18]],"date-time":"2021-07-18T00:00:00Z","timestamp":1626566400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["7202210"],"award-info":[{"award-number":["7202210"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>To further identify and broaden the phenotypic characteristics and genotype spectrum of the dehydrodolichol diphosphate synthase (<jats:italic>DHDDS<\/jats:italic>) gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Pathogenic variants of <jats:italic>DHDDS<\/jats:italic> were identified by whole\u2010exome sequencing; clinical data of 10 patients (six males, four females; age range 2\u201314y; mean age 5y 9mo, SD 3y 3mo) were collected and analysed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All patients had seizures, and myoclonic seizures could be seen in eight patients, with myoclonic status epilepticus in three. The interictal electroencephalogram (EEG) in four patients at seizure onset showed generalized slow waves, slow wave mixed spikes, and spike and waves. Tremor, ataxia, and hypertonia was observed in six, five, and three patients respectively. The results of short\u2010latency somatosensory evoked potential in two patients were normal, and the symptom of tremor was captured on EEG without time\u2010locked discharges in one patient, suggesting that the tremor in both patients was a motor impairment rather than myoclonic seizures. Global developmental delay occurred in all patients, among whom nine showed severe intellectual disability and one moderate. Five <jats:italic>DHDDS<\/jats:italic> variants were identified, three of which have not been reported previously.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Myoclonic seizure is the most common seizure type in heterozygous <jats:italic>DHDDS<\/jats:italic> variants, while myoclonic status epilepticus can also occur. The pattern of interictal EEG discharges is characterized by slow waves rather than spike and waves, and generalized discharges was prominent.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.14976","type":"journal-article","created":{"date-parts":[[2021,7,18]],"date-time":"2021-07-18T19:00:25Z","timestamp":1626634825000},"page":"125-134","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase"],"prefix":"10.1111","volume":"64","author":[{"given":"Xianru","family":"Jiao","sequence":"first","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yinan","family":"Xue","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Brain Hospital of Hunan Province Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sai","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology Hunan Children\u2019s Hospital Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pan","family":"Gong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Niu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Brain Hospital of Hunan Province Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Brain Hospital of Hunan Province Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Xiong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuehua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9649-8725","authenticated-orcid":false,"given":"Zhixian","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,7,18]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells9030771"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.071514398"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R116.739490"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.09.008"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2014.06.016"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0468-1"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.01.002"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1152\/physiolgenomics.00096.2016"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2017.11.014"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2020.06.011"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2008381117"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-18970-z"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/tcr.20083"}],"container-title":["Developmental Medicine &amp; 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