dc.contributor.author | Gokyigit, Aysen | |
dc.contributor.author | Gurses, Candan | |
dc.contributor.author | Baykan, Betul | |
dc.contributor.author | Bebek, Nerses | |
dc.contributor.author | Muona, Mikko | |
dc.contributor.author | Lehesjoki, Anna Elina | |
dc.contributor.author | Matur, Zeliha | |
dc.contributor.author | Altiokka, Gunes | |
dc.contributor.author | Yavuz, Ebru Nur Vanli | |
dc.date.accessioned | 2021-03-03T16:35:48Z | |
dc.date.available | 2021-03-03T16:35:48Z | |
dc.date.issued | 2016 | |
dc.identifier.citation | Yavuz E. N. V. , Altiokka G., Matur Z., Muona M., Bebek N., Gurses C., Lehesjoki A. E. , Gokyigit A., Baykan B., "Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case", TURKISH JOURNAL OF NEUROLOGY, cilt.22, sa.2, ss.84-87, 2016 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_4518e410-9821-42c3-9ee2-35782f38e910 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/50118 | |
dc.identifier.uri | https://doi.org/10.4274/tnd.32650 | |
dc.description.abstract | Sialidosis are autosomal recessive inherited disorders caused by a mutation on the NEU1 gene. In type 1 sialidosis, a "cherry-red spot" can be observed in fundoscopic examinations. In this study, a woman aged 37 years without "cherry-red spot" on ophthalmologic examination is reported to draw attention to a new phenotypic variation. Although an ophthalmologic examination was normal, for patients with consanguineous parents with progressive ataxia, drug-resistant epilepsy and myoclonus must be investigated for progressive myoclonic epilepsy and genetic analysis for sialidosis must be performed. The diagnosis is also crucial for genetic consultancy of the family. | |
dc.language.iso | eng | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Nöroloji | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Sağlık Bilimleri | |
dc.subject | KLİNİK NEUROLOJİ | |
dc.subject | Klinik Tıp | |
dc.subject | Tıp | |
dc.title | Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case | |
dc.type | Makale | |
dc.relation.journal | TURKISH JOURNAL OF NEUROLOGY | |
dc.contributor.department | University Of Helsinki , , | |
dc.identifier.volume | 22 | |
dc.identifier.issue | 2 | |
dc.identifier.startpage | 84 | |
dc.identifier.endpage | 87 | |
dc.contributor.firstauthorID | 228011 | |