Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series
DHDDS-related disorders should be considered in patients with intellectual disability, epilepsy with early-onset eyelid myoclonia and myoclonic or myoclonic-atonic seizures, and movement disorders, including myoclonus and tremor, with slow progression. We identified polymicrogyria as a novel finding in DHDDS patients. For drug-resistant epilepsy in these patients, corpus callosotomy and fenfluramine may represent promising treatment options, with this report providing specific insights into their efficacy.
Authors
- Yu Kobayashi (ORCID: https://orcid.org/0000-0002-6196-604X)
- Emiko Morimoto (ORCID: https://orcid.org/0000-0002-9687-513X)
- Moemi Hojo
- Jun Tohyama (ORCID: https://orcid.org/0000-0001-6468-901X)
- Mitsuhiro Kato (ORCID: https://orcid.org/0000-0003-1485-8553)
- Fuyuki Miya (ORCID: https://orcid.org/0000-0001-6758-2015)
- Satoru Sakuma (ORCID: https://orcid.org/0000-0003-3563-2190)
- Hirotomo Saitsu (ORCID: https://orcid.org/0000-0003-0723-0960)
- Naomichi Matsumoto (ORCID: https://orcid.org/0000-0001-9846-6500)
- Kei Yamada (ORCID: https://orcid.org/0000-0002-8123-3935)
- Hitomi Fujii
- Masaki Miura
Institutions
- SHOWA Medical University (JP)
- Hamamatsu University School of Medicine (JP)
- Osaka City General Hospital (JP)
- Yokohama City University Hospital (JP)
- Keio University Hospital (JP)
- Nishi Niigata Chuo National Hospital (JP)
- Osaka City University Hospital (JP)
- Osaka Metropolitan University (JP)
- Yokohama City University (JP)
Publication Details
- Journal
- Brain and Development
- Published
- 2025-10-18
- DOI
- https://doi.org/10.1016/j.braindev.2025.104478
- Citations
- 1
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 1.67
Funders
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science