Action myoclonus-renal failure syndrome: A case report with bioinformatic annotations

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dc.authorid0000-0002-5595-7251en_US
dc.authorid0000-0001-6985-9436en_US
dc.authorid0000-0001-7231-2394en_US
dc.contributor.authorEkmekçi, Hakan
dc.contributor.authorQutob, Omar
dc.contributor.authorBabayev, Huseyn
dc.contributor.authorŞahin, Ali
dc.date.accessioned2024-07-24T06:13:29Z
dc.date.available2024-07-24T06:13:29Z
dc.date.issued2023en_US
dc.departmentBAİBÜ, Lisansüstü Eğitim Enstitüsü, Sağlık Bilimleri, Mikrobiyoloji Ana Bilim Dalıen_US
dc.description.abstractAction myoclonus-renal failure (AMRF) syndrome is a rare autosomal recessive disorder characterized by myoclonic epilepsy with occasional renal failure comorbidity. This study examines a consanguineous family with multiple members presenting myoclonic epilepsy. The disease's continued transmission within the family is attributable to a lack of genetic testing and the inability to establish a definitive diagnosis. Our objective is to guide physicians toward accurate diagnoses and reduce the disease's recurrence through appropriate genetic counseling. Various diagnostic approaches can contribute to identifying AMRF. While magnetic resonance imaging (MRI) results and blood panels may not yield definitive diagnoses, electromyography (EMG) studies can serve as a robust diagnostic tool, leading to genetic confirmation. In line with standardized protocols, EMG findings consistent with AMRF present a polyneuropathy characterized by axonal degeneration and demyelinating features. These features manifest as decreased amplitude for axonal degeneration and decreased nerve conduction velocity (NCV) for demyelination. The presence of such EMG findings in a patient exhibiting both renal and central nervous system involvement may reinforce a preliminary diagnosis and warrant further genetic analysis.en_US
dc.identifier.citationEkmekci, H., Qutob, O., Babayev, H., & Şahin, A. (2023). Action Myoclonus-Renal Failure Syndrome: A Case Report with Bioinformatic Annotations. Cureus, 15(7).en_US
dc.identifier.doi10.7759/cureus.41261
dc.identifier.endpage6en_US
dc.identifier.issn2168-8184
dc.identifier.issue7en_US
dc.identifier.pmid37529812en_US
dc.identifier.startpage1en_US
dc.identifier.urihttp://dx.doi.org/10.7759/cureus.41261
dc.identifier.urihttps://hdl.handle.net/20.500.12491/12267
dc.identifier.volume15en_US
dc.identifier.wosWOS:001041281800013en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorBabayev, Huseyn
dc.language.isoenen_US
dc.publisherSpringernatureen_US
dc.relation.ispartofCureus Journal of Medical Scienceen_US
dc.relation.publicationcategoryOlgu Sunumu - Uluslararası Hakemli Dergi - İdari Personel ve Öğrencien_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectScarb2 Proteinen_US
dc.subjectBioinformaticsen_US
dc.subjectFrameshift Mutationen_US
dc.subjectGeneen_US
dc.subjectEpilepsyen_US
dc.subjectDeficiencyen_US
dc.titleAction myoclonus-renal failure syndrome: A case report with bioinformatic annotationsen_US
dc.typeCase Reporten_US

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