دورية أكاديمية
Episodic ataxias: Faux or real?
| العنوان: | Episodic ataxias: Faux or real? |
|---|---|
| المؤلفون: | Giunti, P, Mantuano, E, Frontali, M |
| المصدر: | International Journal of Molecular Sciences , 21 (18) , Article 6472. (2020) |
| سنة النشر: | 2020 |
| المجموعة: | University College London: UCL Discovery |
| مصطلحات موضوعية: | episodic ataxia, channelopathies, KCNA1, CACNA1A, SLC1A3, PRRT2, FGF14, SCN2A, SLCA1 |
| الوصف: | The term Episodic Ataxias (EA) was originally used for a few autosomal dominant diseases, characterized by attacks of cerebellar dysfunction of variable duration and frequency, often accompanied by other ictal and interictal signs. The original group subsequently grew to include other very rare EAs, frequently reported in single families, for some of which no responsible gene was found. The clinical spectrum of these diseases has been enormously amplified over time. In addition, episodes of ataxia have been described as phenotypic variants in the context of several different disorders. The whole group is somewhat confused, since a strong evidence linking the mutation to a given phenotype has not always been established. In this review we will collect and examine all instances of ataxia episodes reported so far, emphasizing those for which the pathophysiology and the clinical spectrum is best defined. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | text |
| اللغة: | English |
| العلاقة: | https://discovery.ucl.ac.uk/id/eprint/10110040/1/ijms-21-06472.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10110040Test/ |
| الإتاحة: | https://discovery.ucl.ac.uk/id/eprint/10110040/1/ijms-21-06472.pdfTest https://discovery.ucl.ac.uk/id/eprint/10110040Test/ |
| حقوق: | open |
| رقم الانضمام: | edsbas.CC8D88BA |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |