dc.contributor.author | Yesilyurt, Ahmet | |
dc.contributor.author | Caliskan, Meliha Mine | |
dc.contributor.author | Karacabey, Burcin Nazli | |
dc.contributor.author | Yildiz, Edibe Pembegul | |
dc.contributor.author | Aydinli, Nur | |
dc.contributor.author | Kilic, Mehmet Akif | |
dc.contributor.author | Kipoglu, Osman | |
dc.contributor.author | Coskun, Orhan | |
dc.date.accessioned | 2021-12-10T11:43:35Z | |
dc.date.available | 2021-12-10T11:43:35Z | |
dc.date.issued | 2021 | |
dc.identifier.citation | Kilic M. A. , Kipoglu O., Coskun O., Karacabey B. N. , Yesilyurt A., Yildiz E. P. , Aydinli N., Caliskan M. M. , "Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement", BRAIN & DEVELOPMENT, cilt.43, sa.10, ss.1039-1043, 2021 | |
dc.identifier.issn | 0387-7604 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_909ef056-3bff-4ae8-8e33-fe751ec53556 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/172496 | |
dc.identifier.uri | https://doi.org/10.1016/j.braindev.2021.06.001 | |
dc.description.abstract | In recent years, with advances in molecular genetics, many new mutations with various ataxic syndromes have been identified. Recently, homozygous sequestosome 1 (SQSTM1) gene variant with a progressive childhood-onset cerebellar ataxia, dystonia and gaze palsy was described. Here we describe a patient with progressive cerebellar ataxia and gaze palsy, as well as myoclonus, cognitive impairment and growth retardation with a homozygous SQSTM1 variant NM 003900.5:c.55G > T (p.Glu19*). Our case had brainstem lesions on brain magnetic resonance imaging that have not been previously reported. This novel finding expands the SQSTM1 gene-associated neuroradiologic spectrum. Homozygous SQSTM1 variant should be considered in the differential diagnosis in patients presenting with cerebellar findings, gaze palsy, and cognitive impairment to facilitate early diagnosis and genetic counseling. (C) 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. | |
dc.language.iso | eng | |
dc.subject | Nöroloji | |
dc.subject | Neurology | |
dc.subject | Pediatrics | |
dc.subject | Neurology (clinical) | |
dc.subject | Pediatrics, Perinatology and Child Health | |
dc.subject | Life Sciences | |
dc.subject | Health Sciences | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Çocuk Sağlığı ve Hastalıkları | |
dc.subject | Tıp | |
dc.subject | PEDİATRİ | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Klinik Tıp | |
dc.subject | KLİNİK NEUROLOJİ | |
dc.title | Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement | |
dc.type | Makale | |
dc.relation.journal | BRAIN & DEVELOPMENT | |
dc.contributor.department | İstanbul Üniversitesi , , | |
dc.identifier.volume | 43 | |
dc.identifier.issue | 10 | |
dc.identifier.startpage | 1039 | |
dc.identifier.endpage | 1043 | |
dc.contributor.firstauthorID | 2770770 | |