Has Progress Been Made in Progressive Myoclonic Epilepsy (EPM1)?
نویسندگان
چکیده
منابع مشابه
3D Texture Analysis Reveals Imperceptible MRI Textural Alterations in the Thalamus and Putamen in Progressive Myoclonic Epilepsy Type 1, EPM1
Progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessively inherited neurodegenerative disorder characterized by young onset age, myoclonus and tonic-clonic epileptic seizures. At the time of diagnosis, the visual assessment of the brain MRI is usually normal, with no major changes found later. Therefore, we utilized texture analysis (TA) to characterize and classify the underlyin...
متن کاملProgressive myoclonic epilepsy with Fanconi syndrome
This report illustrates the difficulties in diagnosing complex cases and demonstrates how whole exome sequencing can resolve complex phenotypes.
متن کاملLate-Onset Myoclonic Epilepsy in Down Syndrome: Investigation of EPM1 Gene Mutations in two Cases
Late-onset myoclonic epilepsy is being increasingly recognized as a late complication in elderly patients with Down syndrome (DS) in association with cognitive decline. This specific syndrome bears some broad clinical and EEG similarities to the progressive myoclonic epilepsies, particularly Unverricht-Lundborg disease (ULD). Our aim was to investigate a possible shared patho-genetic mechanism ...
متن کاملThe prevalence, impact and economic implications of atrial fibrillation in stroke: what progress has been made?
Atrial fibrillation (AF) is a major risk factor for stroke, especially in the elderly. Increased life expectancies mean that AF-related stroke is a growing global public health concern. Improvements in the detection, treatment and prevention of the consequences of AF have occurred in recent years. However, the extent to which these improvements have impacted on the prevalence of AF, the risk of...
متن کاملProgressive myoclonic epilepsy due to Gaucher's disease in an adult.
A 39 year old Jewish male with a 22 year history of progressive myoclonic epilepsy was found to have Gaucher cells in his sternal bone marrow. The diagnosis of Gaucher's disease was confirmed by the demonstration of beta-glucosidase deficiency in fibroblasts. Although neurological involvement is extremely rare in adults with Gaucher's disease, this disease is another lipidosis which should be c...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Epilepsy Currents
سال: 2015
ISSN: 1535-7597,1535-7511
DOI: 10.5698/1535-7511-15.5.253