DHDDS-related disease; biallelic missense novel variant causing major severity with an early-onset epilepsy and hyperkinetic movement disorder

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dc.authoridGazeteci Tekin, Hande/0000-0002-4407-164X
dc.contributor.authorGazeteci Tekin, Hande
dc.contributor.authorEdem, Pinar
dc.date.accessioned2025-03-20T09:51:04Z
dc.date.available2025-03-20T09:51:04Z
dc.date.issued2024
dc.departmentİzmir Bakırçay Üniversitesi
dc.description.abstractBackground: Dehydrodolichyl diphosphate synthase complex is encoded by DHDDS. De novo mutations in this gene are associated with epilepsy, movement disorders, intellectual and motor disabilities. The clinical picture is commonly identified in children and shows variations in terms of age of onset, severity, seizure types, and types of dyskinesia. Case: we present a case with a infantile- onset epilepsy and severe global developmental delay, caused by a novel, de novo homozygous variant (c.425C > T, p.Thr142Met) in DHDDS. Clinical improvement was achieved with valproate and tetrabenazine treatments in the 2-year-old male patient with drug-resistant epilepsy, hyperkinetic movement disorder and myoclonus. Conclusion: Despite being rare, DHDDS-related diseases should be considered in patients with movement disorders, seizures and global developmental delay in infancy in differential diagnosis of patients resembling neuronal ceroid lipofuscinosis or progressive myoclonic epilepsies.
dc.identifier.doi10.1080/00207454.2024.2327405
dc.identifier.issn0020-7454
dc.identifier.issn1563-5279
dc.identifier.pmid38451541
dc.identifier.scopus2-s2.0-85188502926
dc.identifier.scopusqualityQ2
dc.identifier.urihttps://doi.org/10.1080/00207454.2024.2327405
dc.identifier.urihttps://hdl.handle.net/20.500.14034/2392
dc.identifier.wosWOS:001187409900001
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherTaylor & Francis Ltd
dc.relation.ispartofInternational Journal of Neuroscience
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20250319
dc.subjectDHDDS
dc.subjecthyperkinetic movements
dc.subjectdrug-resistant epilepsy
dc.subjectmyoclonus
dc.titleDHDDS-related disease; biallelic missense novel variant causing major severity with an early-onset epilepsy and hyperkinetic movement disorder
dc.typeArticle

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