DHDDS-related epilepsy with hippocampal atrophy: a case report

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 present...

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Veröffentlicht in:	Neurogenetics 2024-11, Vol.26 (1), p.3, Article 3
Hauptverfasser:	de Oliveira Franco, Álvaro, Morillos, Matheus Bernardon, Bravo Leite, Martim Tobias, Bianchin, Marino Muxfeldt, Torres, Carolina Machado
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Sprache:	eng
Schlagworte:	Anticonvulsants Ataxia Atrophy Basal ganglia Brain research Brief Communication Case reports Central nervous system diseases Convulsions & seizures Developmental Disabilities - complications Developmental Disabilities - genetics Dyskinesia Dystonia Epilepsy Epilepsy - complications Epilepsy - genetics Female Females Gait Genes Genetic counseling Genetic testing Hippocampus Hippocampus - pathology Human Genetics Humans Magnetic resonance imaging Male Medicine Medicine & Public Health Middle Aged Molecular Medicine Movement disorders Mutation Mutation - genetics Neurodevelopmental disorders Neuroimaging Neurology Neurosciences Phenotype Phenotypes Seizures
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creator	de Oliveira Franco, Álvaro Morillos, Matheus Bernardon Bravo Leite, Martim Tobias Bianchin, Marino Muxfeldt Torres, Carolina Machado
description	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.
doi_str_mv	10.1007/s10048-024-00780-w
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subjects	Anticonvulsants Ataxia Atrophy Basal ganglia Brain research Brief Communication Case reports Central nervous system diseases Convulsions & seizures Developmental Disabilities - complications Developmental Disabilities - genetics Dyskinesia Dystonia Epilepsy Epilepsy - complications Epilepsy - genetics Female Females Gait Genes Genetic counseling Genetic testing Hippocampus Hippocampus - pathology Human Genetics Humans Magnetic resonance imaging Male Medicine Medicine & Public Health Middle Aged Molecular Medicine Movement disorders Mutation Mutation - genetics Neurodevelopmental disorders Neuroimaging Neurology Neurosciences Phenotype Phenotypes Seizures
title	DHDDS-related epilepsy with hippocampal atrophy: a case report
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