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Mutations in EFHC1 cause juvenile myoclonic epilepsy
TLDR
A new gene is described in this region, EFHC1, which encodes a protein with an EF-hand motif that is associated with juvenile myoclonic epilepsy and which increased R-type Ca2+ currents that were reversed by the mutations associated with JME. Expand
Congenital malformations due to antiepileptic drugs
TLDR
The results indicate that the increased incidence of congenital malformations was caused primarily by AEDs, suggesting that mal Formations can be prevented by improvements in drug regimen, and by avoiding polypharmacy and high levels of VPA in the treatment of epileptic women of childbearimg age. Expand
Mutations of Neuronal Voltage‐gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)
TLDR
The aim of this study was to delineate the genetic correlation between core SMEI and SMEB and to estimate the frequency of mutations in both phenotypes. Expand
Prevalence of metabolic syndrome among patients with schizophrenia in Japan
TLDR
Patients with schizophrenia or schizoaffective disorder in Japan had high prevalence of MetS compared to the general population, and was most apparent for those under 60 years of age. Expand
Adenosine A1 and A2 receptors modulate extracellular dopamine levels in rat striatum
TLDR
The results indicate that the stimulatory effects of the A2 receptor on striatal extracellular dopamine levels are masked by the inhibitory effects ofThe A1 receptor. Expand
Stereoselective pharmacokinetics of pantoprazole, a proton pump inhibitor, in extensive and poor metabolizers of S‐mephenytoin
TLDR
The results indicate that the stereoselective metabolism of pantoprazole depends on S‐mephenytoin 4′‐hydroxylase (CYP2C19) and that the metabolism of (+)‐pantoprazoles was impaired to a greater extent than (–)‐ pantopazole in the poor metabolizers. Expand
Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy
Purpose: Genetic abnormalities of the gene encoding α1 subunit of the sodium channel (SCN1A), which can be detected by direct sequencing, are present in more than 60% of patients with severeExpand
Effects of interleukin-1β on hippocampal glutamate and GABA releases associated with Ca2+-induced Ca2+ releasing systems
TLDR
The results indicate that hyperactivation of IL-1beta leads to imbalance between glutamatergic and GABAergic transmission via toxic overload response of Ca2+ influx and CICR. Expand
No association between dietary patterns and depressive symptoms among a community-dwelling population in Japan
TLDR
The present study failed to find associations between dietary patterns and the risk of depression, and the interpretation of the results was hampered by the lack of certain data, including employment physical activity and longitudinal observations. Expand
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