Pyridoxine-dependent seizures: Magnetic resonance spectroscopy findings

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dc.authoridKutlu, Ramazan/0000-0001-7941-7025
dc.authoridAslan, Mehmet/0000-0001-5710-6592
dc.authoridSigirci, Ahmet/0000-0001-9221-0002
dc.authoridYakıncı, Mehmet Cengiz/0000-0001-5930-4269
dc.authorwosidKutlu, Ramazan/B-1624-2016
dc.authorwosidAslan, Mehmet/AEL-7823-2022
dc.authorwosidSigirci, Ahmet/ABG-7387-2020
dc.authorwosidYakıncı, Mehmet Cengiz/ABI-7519-2020
dc.contributor.authorAlkan, A
dc.contributor.authorKutlu, R
dc.contributor.authorAslan, M
dc.contributor.authorSigirci, A
dc.contributor.authorOrkan, I
dc.contributor.authorYakinci, C
dc.date.accessioned2024-08-04T20:13:47Z
dc.date.available2024-08-04T20:13:47Z
dc.date.issued2004
dc.departmentİnönü Üniversitesien_US
dc.description.abstractPyridoxine-dependent seizures are an extremely rare genetic disorder. Early diagnosis and treatment are important for the prevention of permanent. brain damage. Elevated levels of glutamate and decreased levels of gamma-aminobutyric acid (GABA) in the frontal and parietal cortices are among the characteristic features of this disorder. These metabolic abnormalities eventually lead to seizures and neuronal loss. In this case report, we present magnetic resonance spectroscopy findings of a 9-year-old girl with pyridoxine-dependent seizures with mental retardation. The N-acetylaspartate-to-creatine, ratio was found to be decreased in the frontal and parieto-occipital cortices, which could indicate neuronal loss. Magnetic resonance Spectroscopy could be a useful tool in the neuroiniaging evaluation for assessment of parenchymal changes despite a normal-appearing brain magnetic resonance image in patients with pyridoxine-dependent seizures.en_US
dc.identifier.doi10.1177/08830738040190010712
dc.identifier.endpage78en_US
dc.identifier.issn0883-0738
dc.identifier.issue1en_US
dc.identifier.pmid15032392en_US
dc.identifier.scopus2-s2.0-1542708306en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage75en_US
dc.identifier.urihttps://doi.org/10.1177/08830738040190010712
dc.identifier.urihttps://hdl.handle.net/11616/93851
dc.identifier.volume19en_US
dc.identifier.wosWOS:000189329900018en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherB C Decker Incen_US
dc.relation.ispartofJournal of Child Neurologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectEpilepsyen_US
dc.subjectBrainen_US
dc.subjectMrien_US
dc.titlePyridoxine-dependent seizures: Magnetic resonance spectroscopy findingsen_US
dc.typeArticleen_US

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