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

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Title: DHDDS-related disease; biallelic missense novel variant causing major severity with an early-onset epilepsy and hyperkinetic movement disorder.
Authors: Gazeteci Tekin, Hande (AUTHOR), Edem, Pınar (AUTHOR)
Source: International Journal of Neuroscience. Jun2025, Vol. 135 Issue 6, p726-730. 5p.
Subjects: Movement disorders, Neuronal ceroid-lipofuscinosis, Missense mutation, Developmental delay, People with epilepsy
Abstract: Background: 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. [ABSTRACT FROM AUTHOR]
Copyright of International Journal of Neuroscience is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: DHDDS-related disease; biallelic missense novel variant causing major severity with an early-onset epilepsy and hyperkinetic movement disorder.
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  Data: <searchLink fieldCode="AR" term="%22Gazeteci+Tekin%2C+Hande%22">Gazeteci Tekin, Hande</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Edem%2C+Pınar%22">Edem, Pınar</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22International+Journal+of+Neuroscience%22">International Journal of Neuroscience</searchLink>. Jun2025, Vol. 135 Issue 6, p726-730. 5p.
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  Data: <searchLink fieldCode="DE" term="%22Movement+disorders%22">Movement disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Neuronal+ceroid-lipofuscinosis%22">Neuronal ceroid-lipofuscinosis</searchLink><br /><searchLink fieldCode="DE" term="%22Missense+mutation%22">Missense mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Developmental+delay%22">Developmental delay</searchLink><br /><searchLink fieldCode="DE" term="%22People+with+epilepsy%22">People with epilepsy</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background: 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. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
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  Group: Ab
  Data: <i>Copyright of International Journal of Neuroscience is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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      – Type: doi
        Value: 10.1080/00207454.2024.2327405
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      – Code: eng
        Text: English
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        PageCount: 5
        StartPage: 726
    Subjects:
      – SubjectFull: Movement disorders
        Type: general
      – SubjectFull: Neuronal ceroid-lipofuscinosis
        Type: general
      – SubjectFull: Missense mutation
        Type: general
      – SubjectFull: Developmental delay
        Type: general
      – SubjectFull: People with epilepsy
        Type: general
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      – TitleFull: DHDDS-related disease; biallelic missense novel variant causing major severity with an early-onset epilepsy and hyperkinetic movement disorder.
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              Text: Jun2025
              Type: published
              Y: 2025
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              Value: 135
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