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Article

Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series.

Brain & development - 1 Dec 2025

Kobayashi Yu, Sakuma Satoru, Morimoto Emiko, Fujii Hitomi, Yamada Kei, Hojo Moemi, Miura Masaki, Tohyama Jun, Miya Fuyuki, Kato Mitsuhiro, Saitsu Hirotomo, Matsumoto Naomichi

Abstract excerpt

OBJECTIVE: Heterozygous DHDDS variants have been associated with intellectual disability and seizures, with or without movement disorders. We aimed to expand the known phenotypic spectrum of DHDDS-related disorders by elucidating the clinical characteristics of Japanese patients with recurrent DHDDS variants. METHODS: Patients with pathogenic DHDDS variants were recruited from individuals diagnosed with...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41110374
DOI: 10.1016/j.braindev.2025.104478

Genes

DHDDS

Variants

Provenance

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