دورية أكاديمية
Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case
| العنوان: | Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case |
|---|---|
| المؤلفون: | Ebru Nur Vanlı Yavuz, Güneş Altıokka, Zeliha Matur, Mikko Muona, Nerses Bebek, Candan Gürses, Anna Elina Lehesjoki, Ayşen Gökyiğit, Betül Baykan |
| المصدر: | Türk Nöroloji Dergisi, Vol 22, Iss 2, Pp 84-87 (2016) |
| بيانات النشر: | Galenos Yayinevi, 2016. |
| سنة النشر: | 2016 |
| المجموعة: | LCC:Medicine LCC:Neurology. Diseases of the nervous system |
| مصطلحات موضوعية: | Progressive myoclonic epilepsy, sialidosis, NEU1 gene mutation, cherry-red spot, Medicine, Neurology. Diseases of the nervous system, RC346-429 |
| الوصف: | 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1301-062X |
| Relation: | http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-32650; https://doaj.org/toc/1301-062X |
| DOI: | 10.4274/tnd.32650 |
| URL الوصول: | https://doaj.org/article/9d27b9108a504ab181830805cb7a2678 |
| رقم الأكسشن: | edsdoj.9d27b9108a504ab181830805cb7a2678 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 1301062X |
|---|---|
| DOI: | 10.4274/tnd.32650 |