Clinically based score predicting cryptogenic NORSE at the early stage of status epilepticus.

Objective: To determine whether a clinically based score predicts cryptogenic new-onset refractory status epilepticus (C-NORSE) at the early stage of status epilepticus (SE) with prominent motor symptoms (SE-M) of unclear etiology.

Methods: The score (range 0-6) included 6 clinical features: highly refractoriness to antiseizure drugs, previously healthy individual, presence of prodromal fever, absence of prodromal psychobehavioral or memory alterations, absence of dyskinesias, and symmetric brain MRI abnormalities (the first 2 mandatory). We retrospectively assessed the usefulness of a high scale score (≥5) in predicting C-NORSE in 83 patients with SE-M of unclear etiology, who underwent testing for neuronal surface antibodies (NS-Abs) between January 2007, and December 2019.

Evoked potential studies for predicting functional recovery in a case of acute necrotizing encephalopathy.

Normal-appearing evoked potentials during the acute stage of the disease despite persistent coma may predict subsequent functional recovery of the brain in a pediatric case of acute necrotizing encephalopathy, indicating that evoked potential studies are useful for predicting functional outcome of the brain.

Strong coupling between slow oscillations and wide fast ripples in children with epileptic spasms: Investigation of modulation index and occurrence rate.

Objective: Epileptic spasms (ES) often become drug-resistant. To reveal the electrophysiological difference between children with ES (ES+) and without ES (ES-), we compared the occurrence rate (OR) of high-frequency oscillations (HFOs) and the modulation index (MI) of coupling between slow and fast oscillations. In ES+, we hypothesized that (1) pathological HFOs are more widely distributed and (2) slow oscillations show stronger coupling with pathological HFOs than in ES-.

Cryptogenic NORSE: Its distinctive clinical features and response to immunotherapy.

Objective: To report the distinctive clinical features of cryptogenic new-onset refractory status epilepticus (C-NORSE) and the C-NORSE score based on initial clinical assessments.

Methods: A retrospective study was conducted for 136 patients with clinically suspected autoimmune encephalitis who underwent testing for autoantibodies to neuronal surface antigens between January 1, 2007, and August 31, 2016. Eleven patients with C-NORSE were identified.

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.

Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigmentation. Mutations in EPG5, a gene that encodes a key autophagy regulator, have been shown to cause VICIS, however, the precise pathomechanism underlying VICIS is yet to be clarified. Here, we describe detailed clinical (including brain MRI and muscle biopsy) and genetic features of nine Japanese patients with VICIS.

Epileptogenic high-frequency oscillations skip the motor area in children with multilobar drug-resistant epilepsy.

Objective: Subtotal hemispherectomy involves the resection of multiple lobes in children with drug-resistant epilepsy, skipping the motor area (MA). We determined epileptogenicity using the occurrence rate (OR) of high-frequency oscillations (HFOs) and the modulation index (MI), demonstrating strength of coupling between HFO and slow wave. We hypothesized that epileptogenicity increased over the multiple lobes but skipped the MA.

Correlating blood and urinary concentrations of clobazam doses in Japanese children and adolescents with intractable epilepsy.

Clobazam (CLB) is an antiepileptic drug that is metabolized to the major metabolite N-desmethylclobazam (N-CLB). Our aim was to evaluate the utility of corrected urinary concentrations of CLB and N-CLB in Japanese children and adolescents with epilepsy. Blood and urinary concentrations of CLB and N-CLB were evaluated in 42 patients.

Interictal high-frequency oscillations generated by seizure onset and eloquent areas may be differentially coupled with different slow waves.

Objective: High-frequency oscillations (HFOs) can be spontaneously generated by seizure-onset and functionally-important areas. We determined if consideration of the spectral frequency bands of coupled slow-waves could distinguish between epileptogenic and physiological HFOs.

Methods: We studied a consecutive series of 13 children with focal epilepsy who underwent extraoperative electrocorticography.

The Effectiveness of Lamotrigine and Its Blood Levels for Pediatric Epilepsy.

This study was conducted to evaluate the effectiveness of lamotrigine (LTG) over 2 years and the usefulness of measuring its blood levels during the follow-up of patients with epilepsy. We measured peak blood LTG levels of 32 patients with epilepsy (9.16 ± 3.

The efficacy of levetiracetam for focal seizures and its blood levels in children.

Aim: To evaluate the efficacy of levetiracetam (LEV) and the usefulness of measurement of its blood levels during the follow-up of patients with focal seizures.

Methods: Twenty-four patients (13 cases without impairment of consciousness or awareness and 11 cases with them or evolving to a bilateral, convulsive seizure) treated with LEV had their peak blood levels measured. The blood concentrations were measured at 2 weeks, 1 year and 2 years after reaching the LEV maintenance dosage.

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

Purpose: Early onset epileptic encephalopathies (EOEEs) are heterogeneous epileptic disorders caused by various abnormalities in causative genes including point mutations and copy number variations (CNVs). In this study, we performed targeted capture and sequencing of a subset of genes to detect point mutations and CNVs simultaneously.

Methods: We designed complementary RNA oligonucleotide probes against the coding exons of 35 known and potential candidate genes.

The efficacy of gabapentin in children of partial seizures and the blood levels.

Aim: To evaluate the long-term efficacy of gabapentin (GBP) and usefulness of measurement of the blood level for the observation of patients that have partial seizures.

Methods: Thirty patients (20 effective cases and 10 ineffective cases) treated with GBP for the localization related epilepsy had their peak blood levels of GBP. The levels were measured seven time points, one, 6, 12, 18, 24, 30, and 36month after the start of medication.

Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation.

A 1-year-old male began suffering from West syndrome at 3 months of age, when electroencephalography revealed hypsarrhythmia accompanied by a periodic, brief suppression phase. The administration of adrenocorticotropic hormone was partially effective for stopping the condition, and the seizure type evolved into brief tonic seizures at 6 months. Thereafter, progressive atrophy of the brain became evident by 9 months of age, predominantly at the brainstem and cerebellum.

Long-term outcomes of children and adolescents who had cerebral palsy with secondary osteoporosis.

Objective: To investigate the long-term efficacy and index of treatment with vitamin D alone or with a bisphosphonate in children and adolescents who have cerebral palsy (CP) with secondary osteoporosis.

Research Design And Methods: Thirty patients diagnosed with CP and secondary osteoporosis were analyzed for 5 years, and the efficacy of treatment was compared. Treatment was divided into three groups: The monotherapy group, consisting of patients taking only alfacalcidol (0.

Brain perfusion SPECT and EEG findings in children with autism spectrum disorders and medically intractable epilepsy.

Objective: We performed brain perfusion single-photon emission computed tomography (SPECT) to detect the abnormal brain region in children with both autism spectrum disorders (ASD) and medically intractable epilepsy.

Methods: Fifteen children aged 4-16 years underwent multimodal examinations (MRI, interictal and/or ictal ECD-SPECT, EEG and MEG) to investigate their indications for surgical treatment. All children were diagnosed with ASD according to DSM-IV criteria and intractable epilepsy.

Blood concentrations of midazolam in status epilepticus using an appropriate condition of HPLC.

Background: The aim of the present study was to determine an index to evaluate the efficacy and safety of midazolam (MDZ) to treat status epilepticus (SE). An original system was therefore developed to measure blood concentrations of MDZ and 1-hydroxymidazolam (1-OHMDZ) as the main metabolite on high-performance liquid chromatography.

Methods: This system was established through inspection of chromatograms, calibration curves and coefficient of correlations of MDZ.

Activation of microglia/macrophages expressing phosphorylated S6 ribosomal protein in a case of hemimegalencephaly with progressive calcification and atrophy.

A 3-year-old boy with right hemimegalencephaly (HME) showed massive calcification in the subcortical white matter and progressive atrophy of the affected hemisphere. Hemispherotomy was successful in amelioration of the patient's intractable epilepsy, and a surgical specimen from the epileptic focus was examined pathologically. Disarrangement of cortical layers along with dysmorphic appearance of neurons, balloon cells in the cortex and white matter, bi-layered calcifications in the superficial cortical layer and subcortical white matter, heterotopic neurons in the white matter, and diffuse astrogliosis were noted.

[Serious complications of intraventricular interferon-alpha and ribavirin in the treatment of subacute sclerosing panencephalitis].

We treated three patients with subacute sclerosing panencephalitis with intraventricular interferon-alpha and oral inosiplex, and followed their clinical courses. One patient was also treated with ribavirin. Results were unsatisfactory; no significant clinical improvement was seen in the patients, and a number of serious complications occurred.

Remission associated with human herpesvirus infection in west syndrome.

Generally, West syndrome is an intractable epileptic syndrome in infancy, although spontaneous remission has been reported in some cases. An immunologic response to infection might be one of the factors involved in the remission of West syndrome, but the mechanisms remain unknown. On the other hand, exanthema subitum is a common disease occurring in infancy with the characteristics of fever and rash.