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dystonia/епилептични припадъци

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7 резултата

Induced Pluripotent Stem Cells for Niemann Pick Disease

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Niemann-Pick disease type C (NPC) is a lipid storage disease that can present in infants, children, or adults. Neonates can present with ascites and severe liver disease from infiltration of the liver and/or respiratory failure from infiltration of the lungs. Other infants, without liver or

Natural History Study of ATP1A3-related Disease

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Alternating hemiplegia of childhood (AHC) is a rare very disabling neurodevelopmental syndrome caused by mutations in the gene ATP1A3. AHC is characterized by paroxysmal events including attacks of hemiplegia (weakness), dystonia (painful stiffening), oculomotor abnormalities and epileptic seizures.

Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin

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The aim of this study is to evaluate the safety and tolerability of triheptanoin in participants with Rett syndrome using laboratory values, electrocardiogram, rate of adverse events (AE), and physical exam. This study also seeks to evaluate the efficacy of UX007 (triheptanoin) in improving overall

Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)

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Gangliosidosis: Gangliosides are complex compunds consisting of a glycosphingolipid and a sialic acid and are located at the cell surface where they are responsible for detecting extracellular molecules. Gangliosides are mainly located in the nervous system. If gangliosides accumulate pathologically

Efficacy of Levetiracetam in Oromandibular and Cranial Dystonia

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Objectives: --To determine the efficacy of levetiracetam (LVT) for reducing the symptoms of subjects with oromandibular dystonia (OMD) or cranial dystonia (CD) as assessed by dystonia rating scales and to report all adverse events in this study. Sample Size and Population: --We plan to recruit 10

BDNF and Motor Learning

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Subjects and Design: A pretest/posttest design will be used. A convenience sample of healthy college students will be studied and will undergo an initial screening by the PI or Co-Investigators consisting of medical history and neurologic disorder review to assess safety and qualifications to

Efficacy Trial of Zonisamide for Myoclonus Dystonia

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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
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