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Article

DHDDS-related epilepsy with hippocampal atrophy: a case report.

Neurogenetics - 22 Nov 2024

de Oliveira Franco Álvaro, Morillos Matheus Bernardon, Bravo Leite Martim Tobias, Bianchin Marino Muxfeldt, Torres Carolina Machado

Abstract excerpt

Developmental delay and seizures with or without movement abnormalities (DEDSM) is a neurodevelopmental phenotype associated with monoallelic mutations in the DHDDS gene. We report a novel case of DEDSM linked to a DHDDS variant (c.614G > A, p.Arg205Gln) in a 45-year-old Brazilian patient presenting with refractory epilepsy, ataxia, dystonia, parkinsonism, and global developmental delay. This is the first case to...

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PMID: 39576357
DOI: 10.1007/s10048-024-00780-w

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