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Updated: May 11, 2026

Preparation of Acute Human Hippocampal Slices for Electrophysiological Recordings
Published on: May 7, 2020
DHDDS-related epilepsy with hippocampal atrophy: a case report
Álvaro de Oliveira Franco1,2, Matheus Bernardon Morillos3,4, Martim Tobias Bravo Leite3
1Service of Neurology, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, 2350 Rua Ramiro Barcelos, Porto Alegre, RS, 90035-903, Brazil. alvaro.doliveirafranco@gmail.com.
Abstract:
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 associate a DHDDS variant with hippocampal atrophy on neuroimaging. After adjustments in anticonvulsant therapy, seizure control was achieved, and the patient-who was previously unable to walk due to frequent falls attributed to myoclonic jerks-showed significant improvement in gait and mobility.
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