Everolimus for epilepsy and autism spectrum disorder in tuberous sclerosis complex: EXIST-3 substudy in Japan.

Background: Epilepsy and autism spectrum disorder (ASD) are the common neurological manifestations of tuberous sclerosis complex (TSC). EXIST-3 study has recently demonstrated that everolimus reduces seizures in patients with TSC and refractory epilepsy. Here we report the efficacy and safety of everolimus for treatment-refractory seizures in Japanese patients of EXIST-3, along with the exploratory analysis evaluating the everolimus effect on comorbid ASD symptoms in these patients.

Primary diffuse large B-cell lymphoma of the choroid plexus: A case report and review of the literature.

Background: Primary lymphomas in the choroid plexus are much less frequent than primary lymphomas in the brain parenchyma.

Case Description: A 66-year-old male patient was referred to our department with a right intraventricular mass that had been diagnosed by biopsy at another hospital as anaplastic ependymoma. The patient underwent subtotal removal of the tumor via a transcortical inferior temporal gyrus approach.

Reduced gray matter volume is correlated with frontal cognitive and behavioral impairments in Parkinson's disease.

Objective: To identify the brain-volume reductions associated with frontal cognitive and behavioral impairments in Parkinson's disease (PD).

Methods: Forty PD patients without dementia or amnesia (Hoehn and Yahr stage 3) and 10 age-matched controls underwent brain magnetic resonance imaging. Cognitive and behavioral impairments were assessed by using the Frontal Assessment Battery (FAB) and Frontal Systems Behavioral Scale (FrSBe), respectively.

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.

Background: Renal angiomyolipoma occurs at a high frequency in patients with tuberous sclerosis complex (TSC) and is associated with potentially life-threatening complications. Despite this frequency and severity, there are no large population-based cohort studies. Here we present baseline and follow-up data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with an aim to provide detailed clinical characteristics of renal angiomyolipoma among patients with TSC.

Association of HLA-A*31:01 Screening With the Incidence of Carbamazepine-Induced Cutaneous Adverse Reactions in a Japanese Population.

Importance: Carbamazepine, a commonly used antiepileptic drug, is one of the most common causes of cutaneous adverse drug reactions (cADRs) worldwide. The allele HLA-A*31:01 is reportedly associated with carbamazepine-induced cADRs in Japanese and European populations; however, the clinical utility of HLA-A*31:01 has not been evaluated.

Objective: To assess the use of HLA-A*31:01 genetic screening to identify Japanese individuals at risk of carbamazepine-induced cADRs.

PNES around the world: Where we are now and how we can close the diagnosis and treatment gaps-an ILAE PNES Task Force report.

An international consensus clinical practice statement issued in 2011 ranked psychogenic nonepileptic seizures (PNES) among the top three neuropsychiatric problems. An ILAE PNES Task Force was founded and initially charged with summarizing the current state of the art in terms of diagnosis and treatment, resulting in two publications. The first described different levels of diagnostic certainty.

Successful hemispherotomy in two refractory epilepsy patients with cerebral hemiatrophy and contralateral EEG abnormalities.

We describe two cases of refractory epilepsy with cerebral hemiatrophy and contralateral electroencephalographic (EEG) abnormalities, in which hemispherotomy of the atrophic hemisphere effectively controlled seizures. Case 1 was a 5-year-1-month-old girl with refractory bilateral asymmetrical tonic posturing seizures predominantly in the right arm. Magnetic resonance imaging showed left porencephaly corresponding to a left middle cerebral artery infarction.

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

Background: In juvenile myoclonic epilepsy, data are limited on the genetic basis of networks promoting convulsions with diffuse polyspikes on electroencephalography (EEG) and the subtle microscopic brain dysplasia called microdysgenesis.

Methods: Using Sanger sequencing, we sequenced the exomes of six members of a large family affected with juvenile myoclonic epilepsy and confirmed cosegregation in all 37 family members. We screened an additional 310 patients with this disorder for variants on DNA melting-curve analysis and targeted real-time DNA sequencing of the gene encoding intestinal-cell kinase ( ICK).

Dystonic Seizures and Intense Hyperperfusion of the Basal Ganglia in a Patient with Anti-N-Methyl-D-Aspartate Receptor Encephalitis.

This report describes a rare case presenting with dystonic seizures due to anti-N-methyl-D-aspartate (NMDA) receptor encephalitis. The patient was an 18-year-old woman with repeated right-dominant dystonic seizures even under sedation. Single-photon emission computed tomography (SPECT) showed intense hyperperfusion of the caudate nuclei, putamen, globus pallidus, thalamus, and insula on the left side, suggesting encephalitis.

Intraventricular Epithelioid Glioblastoma: A Case Report.

Background: Epithelioid glioblastoma, a high-grade, diffuse astrocytic tumor variant, comprises closely packed epithelioid cells and rhabdoid cells. This rare tumor usually develops in the cerebral cortex and diencephalon; however, in the case reported here, it was located intraventricularly.

Case Description: A 47-year-old woman was referred to our hospital with a right intraventricular mass that had rapidly increased in size.

A classification system for verifying the long-term efficacy of resective surgery for drug-resistant seizures.

Objective: To verify the long-term efficacy of resective surgery, we created a classification system in which strictly defined patterns of postoperative seizure emergence are incorporated as basic components and the seizure states throughout the entire follow-up period are assessed comprehensively.

Methods: In our system, Class I has three subclasses (A-C); subclasses A and B are identical to Engel I-A and I-B, respectively. Subclass C comprises patients whose disabling seizures remit within the first 2 years postoperatively.

Somatic mosaic deletions involving SCN1A cause Dravet syndrome.

Somatic mosaicism in single nucleotide variants of SCN1A is known to occur in a subset of parents of children with Dravet syndrome (DS). Here, we report recurrent somatic mosaic microdeletions involving SCN1A in children diagnosed with DS. Through the evaluation of 237 affected individuals with DS who did not show SCN1A or PCHD19 mutations in prior sequencing analyzes, we identified two children with mosaic microdeletions covering the entire SCN1A region.

Functional neuroimaging in Rasmussen syndrome.

Purpose: For a diagnosis of Rasmussen syndrome (RS), clinical course together with electroencephalography (EEG) and magnetic resonance imaging (MRI) findings are considered important, but there are few reports on functional neuroimaging. This study investigated cerebral blood flow (CBF)-single photon emission computed tomography (SPECT), central benzodiazepine receptor (BZR)-SPECT, and fluorine-18 fluorodeoxy glucose-positron emission tomography (FDG-PET) in RS patients, and correlated neuroimaging results with MRI and pathological findings.

Methods: Twenty-three patients diagnosed with RS according to Bien's (2005) diagnostic criteria (including 12 patients with a histological diagnosis) were studied.

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.

SETD1B (SET domain containing 1B) is a component of SET1 histone methyltransferase complex, which mediates the methylation of histone H3 on lysine 4 (H3K4). Here, we describe two unrelated individuals with de novo variants in SETD1B identified by trio-based whole exome sequencing: c.5524C>T, p.

Relationship between Pain and Functional Status in Patients with Amyotrophic Lateral Sclerosis: A Multicenter Cross-Sectional Study.

Background: Pain is a widely neglected symptom in patients with amyotrophic lateral sclerosis (ALS), even though it may be common and have a significant impact on the quality of life.

Objective: The aim of this study was to determine the frequency and characteristics of pain and its treatment in ALS patients.

Design: A multicenter cross-sectional study.

Stiripentol for the treatment of super-refractory status epilepticus with cross-sensitivity.

Background: Cross-sensitivity of rash has been reported between various antiepileptic drugs (AEDs). However, few studies have determined the frequency and management of cross-sensitivity in patients with super-refractory status epilepticus (SRSE).

Aims Of The Study: To examine the optimal AED for treating SRSE with cross-sensitivity.

Detecting sub-second changes in brain activation patterns during interictal epileptic spike using simultaneous EEG-fMRI.

Objective: Epileptic spikes are associated with rapidly changing brain activation involving the epileptic foci and other brain regions in the "epileptic network". We aim to resolve these activation changes using simultaneous electroencephalography (EEG) and functional magnetic resonance imaging (fMRI) recordings.

Methods: Simultaneous EEG-fMRI recordings from 9 patients with epilepsy were used in the analysis.

Adjunctive perampanel in partial-onset seizures: Asia-Pacific, randomized phase III study.

Objectives: To evaluate the efficacy, safety, and tolerability of perampanel, a selective, non-competitive, α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor antagonist, as an adjunctive treatment for patients with refractory partial-onset seizures (POS) from Asia-Pacific.

Materials & Methods: This multicenter, randomized, double-blind, placebo-controlled trial (ClinicalTrials.gov identifier: NCT01618695) involved patients aged ≥12 years with refractory POS (receiving 1-3 antiepileptic drugs).

Epileptic spasms secondary to acute cerebral and cerebellar encephalitis.

Background: Patients with infection-related acute encephalitis sometimes develop epilepsy in the chronic phase of the disease. Patients with postencephalitic epilepsy usually develop partial seizures due to the lesions generated by the encephalitis. We report a case who developed late-onset epileptic spasms after acute cerebral and cerebellar encephalitis.

Ketogenic diet using a Japanese ketogenic milk for patients with epilepsy: A multi-institutional study.

Background: In Japan, Meiji 817-B (M817-B), a powdered ketogenic milk, has been available since the ketogenic diet was introduced to infants and tube-fed children with medication-resistant epilepsy in the 1980s.

Methods: We retrospectively evaluated the efficacy, tolerability, and side effects of the ketogenic diet using M817-B as the main source of daily food intake for patients with epilepsy by sending questionnaires to the members of a subcommittee of the Japan Epilepsy Society that focuses on the proper use of M817-B.

Results: A total of 42 patients were enrolled.

Duchenne muscular dystrophy with platypnea-orthodeoxia from Chilaiditi syndrome.

Introduction: Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described resulting respiratory or digestive symptoms.

Case Presentation: Our patient was a 20-year-old man with DMD who had been receiving noninvasive positive-pressure ventilation during the night.

Influence of Renal Function on Pharmacokinetics of Antiepileptic Drugs Metabolized by CYP3A4 in a Patient With Renal Impairment.

Background: Several studies have demonstrated that renal impairment not only decreases renal clearance but also hepatic clearance of medications that are CYP3A4 substrates. We evaluated the influence of renal function on the pharmacokinetics of antiepileptic drugs metabolized by CYP3A4.

Methods: We retrospectively calculated the concentration/dose ratio (CD ratio) for topiramate and clobazam in an epilepsy patient with renal impairment.

[Transition of Children with Epilepsy to Adult Care: Current Status and Challenge].

Thirty percent of the patients consulting a pediatric neurologist have already reached adulthood as patients and their families do not like transfer to the adult clinics; moreover, there are no suitable clinics. Pediatric neurologists find it difficult to examine adult patients with childhood-onset epilepsy as they are unfamiliar with the psychiatric and psychological symptoms manifested in adulthood, and the common diseases of adulthood. On the other hand, adult neurologists have difficulty obtaining a complete picture of the patient's clinical history since childhood, and are unfamiliar with childhood-specific epilepsy syndrome.