Eri Takeshita

Learn More
To evaluate the effect of corpus callosotomy (CC) on attention deficit and behavioral problems in pediatric patients with intractable epilepsy, we retrospectively investigated sequential patients who had undergone CC to control seizures. Between August 2005 and April 2010, a total of 15 patients aged between 3.1 and 17.9 years underwent CC at our institute.(More)
Angiotensin II type-2 receptor gene (AGTR2) mutations have been recently detected in patients with mental retardation. AGTR2 plays a role in central nervous system development and cognitive functions. We identified a novel missense mutation of c.572G>A (p.G191E) in a 6-year-old boy showing severe mental retardation, pervasive developmental disorder, and(More)
INTRODUCTION Corticosteroids are effective for improving motor function in patients with Duchenne muscular dystrophy (DMD), but there is no consensus on a regimen that balances efficacy and side effects. METHODS Data from three groups of DMD patients were retrospectively analyzed: those treated with 0.75mg/kg/day prednisolone every day (daily group,(More)
Dystrophinopathy is associated strongly with central nervous system manifestation. It has been reported that 4%-15% of patients with dystrophinopathy have febrile seizure, and 2%-12% have epilepsy. In our study, 8% of patients had febrile seizure, and it was more common in patients with mutations downstream of exon 45, especially exon 63. Epilepsy occurred(More)
AIM The aim of the study was to understand the long-term health issues and potential predictors of cardiopulmonary arrest (CPA) in patients with severe childhood-onset psychomotor impairments. METHOD In this single-center, retrospective observational study, the medical records of 140 patients with severe childhood-onset psychomotor impairments were(More)
BACKGROUND Duchenne muscular dystrophy (DMD) is the most commonly inherited neuromuscular disease. Therapeutic agents for the treatment of rare disease, namely "orphan drugs", have recently drawn the attention of researchers and pharmaceutical companies. To ensure the successful conduction of clinical trials to evaluate novel treatments for patients with(More)
Duchenne muscular dystrophy (DMD) is a progressive muscular disorder in which respiratory and heart failures are the main causes of death. Intensive intervention in respiratory and cardiac function has dramatically improved the prognosis; however, dysfunction in other multiple organs may emerge in the later stages of the disease. We report the case of four(More)
OBJECTIVE Neurological manifestations including psychomotor developmental delay and epilepsy in patients with Angelman syndrome caused by ubiquitin protein ligase E3A (UBE3A) mutations has been considered similar but is relatively milder than that in patients with deletion-type Angelman syndrome. This makes the diagnosis of the former subgroup often(More)
AIM To describe the characteristics of hypophosphatemia in severely disabled individuals with neurological disorders and to identify its causative factors. METHOD We retrospectively reviewed clinical data from 82 individuals with motor skills classified as sitting, rollover or bedridden. Age, gender and body mass index were compared in individuals with(More)