7 results match your criteria: "National Epilepsy Center Shizuoka Institute of Epilepsy and Neurological Disorders[Affiliation]"

Article Synopsis
  • The TuberOus SClerosis registry (TOSCA) aims to gather and present baseline data on patients with tuberous sclerosis complex (TSC), focusing on the prevalence and types of epilepsy associated with the condition.
  • A comprehensive collection of patient data from multiple countries revealed that 83.6% of patients reported having epilepsy, with infantile spasms and focal seizures being the most common types, often diagnosed early in life.
  • The findings highlight the importance of genetic factors in predicting the onset of seizures and the effectiveness of GABAergic drugs in treating epilepsy, suggesting better seizure control may correlate with a lower incidence of intellectual disabilities.
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A 3-year-old boy with normal development presented with acute cerebellitis at one year and 10 months of age. His truncal ataxia resolved without treatment. He experienced a relapse of truncal ataxia and atonic seizures at 2 years and one month of age.

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Objective: Gaucher disease (GD) is a lysosomal storage disease characterized by a deficiency of glucocerebrosidase. Although enzyme-replacement and substrate-reduction therapies are available, their efficacies in treating the neurological manifestations of GD are negligible. Pharmacological chaperone therapy is hypothesized to offer a new strategy for treating the neurological manifestations of this disease.

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Objective: Patients with epilepsy after encephalitis/encephalopathy (EAE) are often on polytherapy with anti-epileptic drugs (AEDs), and are at risk of adverse reactions. We examined the adverse effects of AEDs, especially sleepiness, in these patients.

Methods: In this retrospective study, the medical records of 66 patients who were diagnosed with EAE in our hospital were reviewed and the clinical characteristics were analyzed.

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A modified ketogenic diet was demonstrated to be remarkably effective in a child with intractable symptomatic focal epilepsy with combined seizures of focal seizures and epileptic spasms (ES) in a cluster (ESC). ES started at 8 months of age and disappeared with ACTH therapy. At the age of 13 months, the child began to have intractable focal seizures that, later, were followed by ESC 10 times a day.

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Dravet syndrome is a rare, but highly refractory epilepsy syndrome. As conventional drugs are not effective, introduction of new effective drugs in clinical use will benefit patients with this disease. We assessed the effectiveness of topiramate (TPM) as adjunctive therapy in 11 patients with Dravet syndrome.

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