Progressive Myoclonus Epilepsies
نویسندگان
چکیده
منابع مشابه
Progressive Myoclonus Epilepsies.
The progressive myoclonus epilepsies (PMEs) comprise a group of rare and heterogeneous disorders defined by the combination of action myoclonus, epileptic seizures, and progressive neurologic deterioration. Neurologic deterioration may include progressive cognitive decline, ataxia, neuropathy, and myopathy. The gene defects for the most common forms of PME (Unverricht-Lundborg disease, Lafora d...
متن کاملEEG–EMG Information Flow in Movement-Activated Myoclonus in Patients with Progressive Myoclonic Epilepsies
We aimed this study at verifying the appropriateness of generalized partial directed coherence (GPDC) in detecting EEG–EMG information flow and identifying the characteristics of myoclonus-related EEG changes in patients with progressive myoclonus epilepsy (PME). Our results indicate that GPDC analysis is able to detect the presence of a different pattern of connectivity between the EMG and sen...
متن کاملProgressive myoclonic epilepsies.
3. Lafora body disease is characterized by all of the following EXCEPT: a. The presence of cytoplasmic polyglucosan inclusion bodies b. Optic atrophy and retinal degenerations may occur c. The EPM2A gene (laforin) is located at chromosome 6 (6q24) d. The EPM2B gene (malin) is the most common genetic mutation in Lafora body disease e. Paroxysmal electroencephalographic abnormalities including ge...
متن کاملProgressive myoclonic epilepsies
The causal disease Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is an autosomal recessive neurodegenerative disorder that has the highest incidence among the progressive myoclonus epilepsies worldwide (Berkovic et al. 1986; Marseille Consensus Group 1990). It is characterized by stimulussensitive myoclonus, and tonic-clonic epileptic seizures. As EPM1 progresses, patien...
متن کاملProgressive familial myoclonus epilepsy.
Seven cases of progressive familial myoclonus epilepsy occurring in three families are presented. The patients were in different stages of the illness. The EEG was abnormal in all. It is suggested that these cases belong clinically to the Lafora bodies group. Nystagmus and optic atrophy, seen in one patient, have not been described previously. Myoclonic jerks did not respond to treatment with d...
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ژورنال
عنوان ژورنال: Seminars in Neurology
سال: 2015
ISSN: 0271-8235,1098-9021
DOI: 10.1055/s-0035-1552620