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

The hallmark of neuronopathic Gaucher disease (GD) is oculomotor abnormalities, but ophthalmological assessment is difficult in uncooperative patients. Chromatic pupillometry is a quantitative method to assess the pupillary light reflex (PLR) with minimal patient cooperation. Thus, we investigated whether chromatic pupillometry could be useful for neurological evaluations in GD.

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Sudden unexpected death in epilepsy: some approaches for its prevention and medico-legal consideration.

Acta Neurol Belg

September 2015

Japan Epilepsy Research Foundation, National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Urushiyama 886, Aoi-Ku, Shizuoka, 420-8688, Japan,

Worldwide, mortality associated with epilepsy is a matter of grave concern. The mortality rate in epileptic population is two to three times more than that of the general population. Sudden unexplained death in epilepsy, better known as sudden unexpected death in epilepsy (SUDEP), is a mysterious and rare condition, in which typically young or middle-aged people with epilepsy die without a clearly defined cause.

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Purpose: To evaluate the efficacy, safety, and pharmacokinetics of rufinamide as an adjunctive therapy for patients with Lennox-Gastaut syndrome (LGS) in a randomized, double-blind, placebo-controlled trial.

Methods: We conducted a multicenter clinical trial with a 4-week baseline, a 2-week titration, a 10-week maintenance, and either a follow-up visit or entry into an open-label extension. Patients with LGS (4 to 30 years old) taking between one and three antiepileptic drugs were recruited.

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Objective: The basal temporal language area (BTL) is known to be involved in the semantic processing of language. To investigate the neural connectivity between BTL and the posterior language area (PL), we used cortico-cortical evoked potential (CCEP) technique.

Methods: Four patients with intractable epilepsy who underwent presurgical evaluation with subdural electrodes were examined.

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Objective: Monosomy 1p36 syndrome is the most commonly observed subtelomeric deletion syndrome. Patients with this syndrome typically have common clinical features, such as intellectual disability, epilepsy, and characteristic craniofacial features.

Method: In cooperation with academic societies, we analyzed the genomic copy number aberrations using chromosomal microarray testing.

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Individualized phenytoin therapy for Japanese pediatric patients with epilepsy based on CYP2C9 and CYP2C19 genotypes.

Ther Drug Monit

April 2015

*Department of Clinical Research, National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders; and †Department of Clinical Pharmaceutics, Graduate School of Pharmaceutical Sciences, University of Shizuoka, Japan.

Background: The aims of this study were to identify the target dose of phenytoin (PHT) and to compare the treatment continuation rate between patients receiving conventional therapy and patients receiving individualized therapy based on genotyping of the CYP2C9*3, CYP2C19*2, and CYP2C19*3 alleles. The operational definition for the target dose of PHT used in this study was the dose that yielded a steady-state PHT concentration within the range of 15-20 mcg/mL without dose-related adverse effects.

Methods: We investigated 394 samples from 170 Japanese pediatric patients aged 9 months to 15 years to identify factors that influenced the target dose of PHT.

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Background: Multifocal motor neuropathy (MMN) is characterized by clinical improvement with intravenous immunoglobulin and the frequent detection of anti-ganglioside antibodies. However, the immunological background of the neuronal damage in MMN is still unclear.

Objective: The aim of this study is to investigate abnormalities in the cytokine and chemokine profiles of MMN patients.

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Importance: The antiepileptic drug phenytoin can cause cutaneous adverse reactions, ranging from maculopapular exanthema to severe cutaneous adverse reactions, which include drug reactions with eosinophilia and systemic symptoms, Stevens-Johnson syndrome, and toxic epidermal necrolysis. The pharmacogenomic basis of phenytoin-related severe cutaneous adverse reactions remains unknown.

Objective: To investigate the genetic factors associated with phenytoin-related severe cutaneous adverse reactions.

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Purpose: The aim of this study was to evaluate the effect of cytochrome P450 (CYP) inducers/inhibitors on the pharmacokinetics of clobazam (CLB) in patients receiving antiepileptic polypharmacy.

Methods: A total of 2,504 samples obtained from 1,280 patients for routine therapeutic drug monitoring were retrospectively reviewed. These samples were grouped according to the antiepileptic drug regimens or age, and then the concentration to dose (CD) ratio (serum level (ng/ml) divided by dose (mg/kg)) of CLB was calculated for comparison.

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Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.

Nat Commun

July 2014

1] Laboratory for Behavioral and Developmental Disorders, RIKEN Brain Science Institute (BSI), Wako-shi, Saitama 351-0198, Japan [2] Department of Medical Pharmacology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8523, Japan.

GABAergic interneurons are highly heterogeneous, and much is unknown about the specification and functional roles of their neural circuits. Here we show that a transinteraction of Elfn1 and mGluR7 controls targeted interneuron synapse development and that loss of Elfn1 results in hyperactivity and sensory-triggered epileptic seizures in mice. Elfn1 protein increases during postnatal development and localizes to postsynaptic sites of somatostatin-containing interneurons (SOM-INs) in the hippocampal CA1 stratum oriens and dentate gyrus (DG) hilus.

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Purpose: To delineate chronological changes of cortical hyperexcitability by long-term follow-up of the amplitudes of somatosensory evoked potentials (SEPs) in patients with Japanese Unverricht-Lundborg disease (ULD).

Method: SEPs to median nerve stimulation were repeatedly examined in 7 genetically diagnosed ULD patients with the mean interval of 11.9 years.

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We report a clinical case report of the MV2K+C subtype of sporadic Creutzfeldt-Jakob disease (sCJD). The patient was a 72-year-old woman who exhibited progressive dementia over the course of 22 months. Diffusion-weighted MRI during this period showed abnormal hyperintensity in the cerebral cortex in the early stage.

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4217C>A polymorphism in carbamoyl-phosphate synthase 1 gene may not associate with hyperammonemia development during valproic acid-based therapy.

Epilepsy Res

August 2014

Department of Clinical Pharmacology & Genetics, School of Pharmaceutical Sciences, University of Shizuoka, 52-1 Yada, Suruga-ku, Shizuoka City, Shizuoka 422-8526, Japan. Electronic address:

Valproic acid, which is widely used to treat various types of epilepsy, may cause severe hyperammonemia. However, the mechanism responsible for this side effect is not readily apparent. Polymorphisms in the genes encoding carbamoyl-phosphate synthase 1 (CPS1) and N-acetylglutamate synthase (NAGS) were recently reported to be risk factors for the development of hyperammonemia during valproic acid-based therapy.

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Stevens-Johnson syndrome (SJS) and its severe variant, toxic epidermal necrolysis (TEN), are acute inflammatory vesiculobullous reactions of the skin and mucous membranes. Cold medicines including non-steroidal anti-inflammatory drugs (NSAIDs) and multi-ingredient cold medications are reported to be important inciting drugs. We used two sample sets of Japanese patients to investigate the association between HLA genotypes and cold medicine-related SJS/TEN (CM-SJS/TEN), including acetaminophen-related SJS/TEN (AR-SJS/TEN) with severe mucosal involvement such as severe ocular surface complications (SOC).

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Periodic lateralised epileptiform discharges (PLEDs) are uncommon transient electroencephalographic findings accompanied by acute brain lesions. A small proportion of PLEDs persist for more than three months and are called "chronic" PLEDs, the pathophysiology of which is still debated. Herein, we report a man with right hemispheric PLEDs which lasted for more than 14 months and mild left hemispatial neglect after he experienced status epilepticus.

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Rapid, high-frequency, and theta-coupled gamma oscillations in the inferior occipital gyrus during face processing.

Cortex

November 2014

The Organization for Promoting Research in Developmental Disorders, Japan; Faculty of Human Health Science, Kyoto University, Japan.

Neuroimaging studies have found greater activation in the inferior occipital gyrus (IOG), or occipital face area, in response to faces relative to non-facial stimuli. However, the temporal, frequency, and functional profiles of IOG activity during face processing remain unclear. Here, this issue was investigated by recording intracranial field potentials in the IOG during the presentation of faces, mosaics, and houses in upright and inverted orientations.

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The aim of this study was to investigate the effect of sulthiame (STM) on the pharmacokinetics of clobazam (CLB) by determining the concentration to dose (CD) ratio (serum level (ng/ml) divided by dose (mg/kg)) of CLB and that of N-desmethyl-clobazam (DMCLB). We evaluated five patients (an adult and four children) whose serum CLB and DMCLB concentrations were monitored after the addition or discontinuation of STM. Four of the five patients were CYP2C19 intermediate metabolizers, and one patient was an extensive metabolizer.

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Effectiveness of add-on stiripentol to clobazam and valproate in Japanese patients with Dravet syndrome: additional supportive evidence.

Epilepsy Res

May 2014

Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan.

Purpose: To evaluate the efficacy and safety of stiripentol as add-on therapy in Japanese patients with Dravet syndrome treated with clobazam (CLB) and valproate (VPA).

Methods: In this open-label study, patients aged 1-30 years entered a 4-week baseline phase, followed by a 4-week stiripentol dose-adjustment and 12-week fixed-dose phase. The primary efficacy endpoint was responder rate (proportion of patients with a ≥50% reduction from baseline phase in clonic or tonic-clonic seizure frequency over the last 4 weeks of fixed-dose treatment [target phase]).

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Objective: This study attempted to clarify the long-term course of Dravet syndrome (DS).

Methods: Sixty-four patients diagnosed with DS (44 with typical DS, and 20 with atypical DS) were studied. The long-term outcomes of clinical seizures, electroencephalographic findings, neuropsychological findings, and social situation were analyzed.

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Hereditary spastic paraplegia (HSP) is one of the most genetically heterogeneous neurodegenerative disorders characterized by progressive spasticity and pyramidal weakness of lower limbs. Because >30 causative genes have been identified, screening of multiple genes is required for establishing molecular diagnosis of individual patients with HSP. To elucidate molecular epidemiology of HSP in the Japanese population, we have conducted mutational analyses of 16 causative genes of HSP (L1CAM, PLP1, ATL1, SPAST, CYP7B1, NIPA1, SPG7, KIAA0196, KIF5A, HSPD1, BSCL2, SPG11, SPG20, SPG21, REEP1 and ZFYVE27) using resequencing microarrays, array-based comparative genomic hybridization and Sanger sequencing.

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Article Synopsis
  • * Patients with these duplications often suffer from severe ID, uncontrollable seizures, and recurrent infections; larger duplications affecting nearby genes (GDI1, RAB39B) are also linked to ID.
  • * The abnormalities associated with these duplications, including changes in the corpus callosum and white matter as seen on brain MRIs, highlight the complexity of diagnosing and understanding chromosomal duplication syndromes, which requires gathering detailed patient data.
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Influence of uridine diphosphate glucuronosyltransferase 2B7 -161C>T polymorphism on the concentration of valproic acid in pediatric epilepsy patients.

Ther Drug Monit

June 2014

*Department of Clinical Pharmacology & Genetics, School of Pharmaceutical Sciences, University of Shizuoka; and †Department of Clinical Research, National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, National Epilepsy Center, Shizuoka, Japan.

Background: Valproic acid (VPA) is widely used to treat various types of epilepsy. Interindividual variability in VPA pharmacokinetics may arise from genetic polymorphisms of VPA-metabolizing enzymes. This study aimed to examine the relationships between plasma VPA concentrations and the -161C>T single nucleotide polymorphism in uridine diphosphate glucuronosyltransferase (UGT) 2B7 genes in pediatric epilepsy patients.

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Anti-NMDAR autoimmune encephalitis.

Brain Dev

September 2014

Department of Molecular Neuroscience, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama 930-0194, Japan. Electronic address:

The N-methyl-D-aspartate receptor (NMDAR) is involved in normal physiological and pathological states in the brain. Anti-NMDAR encephalitis is characterized by memory deficits, seizures, confusion, and psychological disturbances in males and females of all ages. This type of encephalitis is often associated with ovarian teratoma in young women, but children are less likely to have tumors.

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