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OBJECT Ideal epilepsy surgery would eliminate seizures without causing any functional deficits. The aim of the present study was to assess seizure outcomes and complications after epilepsy surgery in children with intractable epilepsy. METHODS Data obtained in 134 children (75 boys and 59 girls) age 17 years or younger who underwent epilepsy surgery at(More)
Targeted resequencing using next-generation sequencing technology is being rapidly applied to the molecular diagnosis of human genetic diseases. The group of muscular dystrophies may be an appropriate candidate for this approach because these diseases exhibit genotype-phenotype heterogeneity. To perform a proof-of-concept study, we selected four patients(More)
OBJECT Patients with moyamoya disease complain of headache before surgery, after surgery, or in both periods. To clarify the pathophysiological features of these headaches which are one of the major symptoms in moyamoya disease after indirect bypass surgery, the authors reviewed data obtained in patients with moyamoya disease who underwent such surgery at(More)
We investigated the diagnostic performance of 18F-FDG PET and ictal (99m)Tc-HMPAO SPET in pediatric temporal lobe epilepsy (TLE). Twenty-one pediatric TLE patients were enrolled in this study. Their diagnoses were confirmed by histology and post-surgical outcome (Engel class I or II). The patients' ages were 18 or younger (15+/-3 years). Of the 21 patients,(More)
Rett syndrome is a progressive neurodevelopmental disorder occurring predominantly in females. Recently, mutations in the MECP2 gene on Xq28, which encodes methyl-CpG binding protein 2, were identified as responsible for some cases of Rett syndrome. In the present study, we analyzed the entire coding sequence of the MECP2 gene in 20 sporadic cases of Rett(More)
We studied characteristics of epilepsy patients who use 'Epilia', a healthcare website for epilepsy patients, and the impact of 'Epilia' on patient satisfaction and attitude about epilepsy. A total of 153 epilepsy patients from 'Epilia' (online group) and 367 patients from epilepsy clinics (offline group) were recruited. A survey was done to investigate(More)
The aim of this study was to evaluate the incidence of thyroid dysfunction during valproic acid (VPA) therapy in children and adolescents with epilepsy. The serum levels of thyroid-stimulating hormone (TSH), free thyroxine, and triiodothyronine were evaluated in 61 children with epilepsy who received VPA monotherapy for more than 6 months and in 144(More)
OBJECT The long-term surgical outcome of pediatric patients with epilepsy accompanied by focal cortical dysplasia (FCD) is not clear. The authors report on the long-term surgical outcomes of children with FCD, based on longitudinal analyses. METHODS The authors retrospectively analyzed the records of 41 children who underwent epilepsy surgery for(More)
To date, approximately 200 different mutations in the MECP2 gene have been identified. We analyzed the entire coding sequence of the MECP2 gene and the X-chromosome inactivation pattern in 42 sporadic cases of Rett syndrome. Of the 42 patients, 30 had pathogenic mutations, including 14 different mutations: 9 missense mutations, 4 nonsense mutations, and 1(More)
PURPOSE We performed this study to evaluate the long-term efficacy and tolerability of ethosuximide (ESX), valproic acid (VPA), and lamotrigine (LTG) as initial monotherapies for patients with newly diagnosed childhood absence epilepsy. METHODS We retrospectively reviewed the medical records of 128 patients (45 boys and 83 girls) diagnosed with childhood(More)