Action myoclonus-renal failure syndrome: Electrophysiological analysis and clinical progression of two siblings

Parkinsonism Relat Disord. 2022 Jun:99:73-75. doi: 10.1016/j.parkreldis.2022.04.023. Epub 2022 May 6.

Authors

Uygur Tanriverdi¹, Merve Hazal Ser², Gozde Yesil³, Aysegul Gunduz², Cigdem Ozkara², Meral E Kiziltan²

Affiliations

¹ Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey. Electronic address: [email protected].
² Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.
³ Department of Medical Genetics, Faculty of Medicine, Istanbul University, Istanbul, Turkey.

PMID: 35617746
DOI: 10.1016/j.parkreldis.2022.04.023

No abstract available

Keywords: Action myoclonus renal failure; EEG; EMG; Myoclonus; SCARB2.

Publication types

Letter

MeSH terms

Electroencephalography
Electromyography
Humans
Mutation
Myoclonic Epilepsies, Progressive* / complications
Myoclonic Epilepsies, Progressive* / genetics
Myoclonus* / diagnosis
Myoclonus* / etiology
Siblings