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dc.contributor.authorArslan, Elif Bengi
dc.contributor.authorCeylaner, Serdar
dc.contributor.authorTuranlı, Güzide
dc.date.accessioned10.07.201910:49:13
dc.date.accessioned2019-07-10T19:37:10Z
dc.date.available10.07.201910:49:14
dc.date.available2019-07-10T19:37:10Z
dc.date.issued2014en_US
dc.identifier.citationArslan, E. B., Ceylaner, S. ve Turanlı, G. (2014). Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndrome. Epilepsy and Behavior Case Reports, 2, 196-198. https://dx.doi.org/10.1016/j.ebcr.2014.09.007en_US
dc.identifier.issn2213-3232
dc.identifier.urihttps://dx.doi.org/10.1016/j.ebcr.2014.09.007
dc.identifier.urihttps://hdl.handle.net/20.500.12511/1347
dc.description.abstractPurpose: Coffin-Lowry syndrome (CLS) is a rare X-linked semidominant syndromic genetic disorder that is characterized by typical facial and radiologic findings, psychomotor and growth retardation, and various skeletal anomalies. A distinctive paroxysmal disorder called stimulus-bound myoclonus is clinically heterogeneous and is generally characterized by a sudden loss of muscle tone that is regained within a few seconds and is induced by sudden auditory or tactile stimulus. As the pathophysiology of stimulus-induced drop episodes (SIDEs) is not well understood, there is no definite therapy for those episodes. Methods: We report a 15-year-old female with stimulus-induced drop episodes occurring many times a day that resulted in failure to perform her daily activities. Because her SIDEs were misdiagnosed as atonic seizures, she was treated with several antiepileptic drugs, including valproic acid, levetiracetam, lamotrigine, primidone, carbamazepine, and clobazam. Results: We realized that her clinical and radiological findings, together with SIDEs, are compatible with Coffin-Lowry syndrome. All of her medications were discontinued following the diagnosis of SIDE, and she was started on clonazepam. After treatment, she became more independent and was able to perform her daily activities. Subsequently, her episodes decreased from 3 times a day to 1-2 times a month. Sodium oxybate and fluoxetine were added to the treatment protocol without remarkable improvement. Her genetic analysis revealed a heterozygous variation of CLS. Conclusion: We conclude that SIDE should be included in a differential diagnosis of epileptic seizures in patients with CLS and that clonazepam is an effective choice in the treatment of SIDEs.en_US
dc.language.isoengen_US
dc.publisherElsevieren_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 Unported*
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/3.0/*
dc.subjectClonazepamen_US
dc.subjectCoffin-Lowry Syndromeen_US
dc.subjectStimulus-Induced Myoclonusen_US
dc.titleStimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndromeen_US
dc.typearticleen_US
dc.relation.journalEpilepsy and Behavior Case Reportsen_US
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
dc.identifier.volume2en_US
dc.identifier.startpage196en_US
dc.identifier.endpage198en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.doi10.1016/j.ebcr.2014.09.007en_US


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