12 các kết quả
The three decades of success of enzyme replacement therapy (ERT) for patients with type 1 Gaucher disease (GD1) have been just a partial success to those patients with the more severe neuronopathic forms, particularly the children with myoclonic epilepsy or the infants with type 2 GD.
Ambroxol
Neuronal Ceroid Lipofuscinosis (NCL) is the most common childhood neurodegenerative disorder characterized by accumulation of autofluorescent waxy lipopigments in the brain and other tissues. The symptoms manifest as blindness, seizures, ataxia, myoclonus and loss of milestones or dementia. This
Electroencephalographic score
Reactivity Absence 1 Presence 0 Dominant frequency α (8-12 Hz) 0 θ (4-7,5 Hz) 1 δ (< 4 Hz) 2 Amplitude > 10 μV 0 < 10 μV 1 GPDs Absence 0 Presence 1 Burst Suppression Absence 0 Presence 1 Paroxysmal activity Absence 0 Presence 1
TOTAL
Farber disease (FD), also known as Farber's lipogranulomatosis, is an autosomal recessive lysosomal storage disease marked by a deficiency in enzyme ceramidase which causes a progressive accumulation of fatty material lipids leading to abnormalities in the joints, liver, throat, tissues and central
In "dystonia", the involuntary abnormal movements cause a driving handicap and a change of the quality of life. A particular shape of dystonia, the Myoclonus Dystonia, is characterized by the ascendancy of myoclonias (abrupt and brief movements) associated with the abnormal dystonia. Myoclonus is an
Formulated Research Question:
Population: ED patients with altered mental status (AMS) Intervention: Micro-EEG Comparison: Standard EEG Outcomes: 1. Sensitivity, specificity, positive/negative likelihood ratios of micro-EEG in identifying non-convulsive seizures and abnormal brain activities 2. The
Convulsive disorders are among the most frequently occurring neurologic conditions in children. Idiopathic seizures are the most common (67.6%) type of seizure seen in the 0-15 year age group. The highest incidence is in the first year of life. In the United States, 5 percent of individuals
The objective of this study is to evaluate the acute effect and potential disease modifying effects of a restrictive minimum carbohydrate diet (ketogenic diet) in patients with Lafora Disease. Untreated Lafora Disease is rapidly progressive to death over about 10 years. In an open label,
The purpose of this study is to investigate the effect of newly developed antiepileptic drug, levetiracetam, on cortical excitability in humans. This drug may be useful in patients with myoclonus, and its mode of action is not well understood. We plan to determine if oral administration of