Late-onset epileptic spasms in a female patient with a CASK mutation.

We report a female patient with late-onset epileptic spasms (ESs) of a rare form, distinct from those seen in typical West syndrome, in association with a heterozygous frameshift CASK mutation (c.1896dupC (p.C633fs(∗)2)).

Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.

Novel PLA2G6 mutations associated with p.Asp283Asn and a unique intragenic deletion of exons 4 and 5 due to non-allelic homologous recombination were identified in a Japanese female patient with typical infantile neuroaxonal dystrophy. The patient showed progressive tetraplegia beginning at 9 months.

Poor toddler-age sleep schedules predict school-age behavioral disorders in a longitudinal survey.

Objective: Behavioral problems are often associated with poor sleep habits in children. We investigated whether undesirable toddler-age sleep schedules may be related to school-age behavioral problems.

Methods: We analyzed the data of a nationwide longitudinal survey with available results from 2001 to 2011.

Action potentials contribute to epileptic high-frequency oscillations recorded with electrodes remote from neurons.

Objective: The importance of epileptic high-frequency oscillations (HFOs) in electroencephalogram (EEG) is growing. Action potentials generating some HFOs are observed in the vicinity of neurons in experimental animals. However electrodes that are remote from neurons, as in case of clinical situations, should not record action potentials.

Trend figures assist with untrained emergency electroencephalogram interpretation.

Objective: Acute electroencephalogram (EEG) findings are important for diagnosing emergency patients with suspected neurological disorders, but they can be difficult for untrained medical staff to interpret. In this research, we will develop an emergency EEG trend figure that we hypothesize will be more easily understood by untrained staff compared with the raw original traces.

Methods: For each of several EEG patterns (wakefulness, sleep, seizure activity, and encephalopathy), trend figures incorporating information on both amplitude and frequency were built.

High-frequency EEG activity in epileptic encephalopathy with suppression-burst.

Objective: We explored high-frequency activity in the suppression-burst (SB) pattern of interictal electroencephalogram (EEG) in early infantile epileptic encephalopathy including Ohtahara syndrome (OS) and early myoclonic encephalopathy (EME) to investigate the pathophysiological characteristics of SB.

Methods: Subjects included six patients with the SB EEG pattern related to OS or EME (Group SB). The results were evaluated in comparison to tracé alternant (TA) observed during the neonatal period in nine patients to rule out possible nonspecific relationships between high-frequency activity and periodic EEG patterns (Group TA).

Everolimus prolonged survival in transgenic mice with EGFR-driven lung tumors.

Everolimus is an orally administered mTOR inhibitor. The effect, and mechanism of action, of everolimus on lung cancers with an epidermal growth factor receptor (EGFR) mutation remain unclear. Four gefitinib-sensitive and -resistant cell lines were used in the present work.

Questionnaire-based assessment of behavioral problems in Japanese children with epilepsy.

Behavioral problems in Japanese children with epilepsy were investigated by means of a questionnaire for parents consisting of three checklists: the Child Behavior Checklist (CBCL)/4-18 Japanese Edition, the High-Functioning Autism Spectrum Screening Questionnaire (ASSQ), and the Attention-Deficit/Hyperactivity Disorder (ADHD) Rating Scale-IV (ADHD-RS) for parents. The participants were the parents of 108 children aged 6-18 years with apparently normal intelligence. The CBCL indicated abnormal behavior in 10.

Cortical contribution to scalp EEG gamma rhythms associated with epileptic spasms.

The cortical contribution for the generation of gamma rhythms detected from scalp ictal EEG was studied in unique cases of epileptic spasms and a review of the related literature was conducted. Ictal scalp gamma rhythms were investigated through time-frequency analysis in two cases with a combination of focal seizures and spasms and another case with spasms associated with cortical dysplasia. In the two patients with combined seizures, the scalp distribution of ictal gamma rhythms was related to that of focal seizure activity.

High-frequency EEG oscillations in hyperthermia-induced seizures of Scn1a mutant rats.

We examined high-frequency oscillations (HFOs) in the ictal cortical EEGs of hyperthermia-induced seizures in a rat model of febrile seizures with an SCN1A mutation as a means of investigating the pathophysiological mechanisms underlying the generation of febrile seizures. We used 13 male homozygous Scn1a-N1417H mutant rats (F344/NSlc-Scn1a(Kyo811)) and 10 wild-type control rats. Generalized tonic-clonic seizures were induced in all mutant rats, and HFOs with frequencies ranging from 200 to 400 Hz were found to precede spikes during the clonic phases of these seizures in the ictal EEGs.

Efficacy of topiramate for intractable childhood generalized epilepsy with epileptic spasms: with special reference to electroencephalographic changes.

Purpose: Epileptic spasms (ES) beyond infancy are a highly refractory type of seizures that require the development of an effective treatment. We therefore studied the efficacy and safety of topiramate (TPM), which is a drug that is indicated to be effective for intractable childhood epilepsy, for ES.

Methods: Out of 58 children with ES, we enrolled 33 patients treated with TPM at ≤ 12 years of age.

Amelioration of disabling myoclonus in a case of DRPLA by levetiracetam.

We report on an 18-year-old male patient with dentatorubral-pallidoluysian atrophy (DRPLA) (number of CAG repeats: 68) with progressive myoclonus epilepsy (PME), who showed a dramatic response to levetiracetam in terms of the intensity of myoclonus. He began to have convulsive seizures and myoclonus at 7 and 10 years of age, respectively, and his intelligence deteriorated from 12 years of age. EEG showed multifocal and diffuse spike-and-wave complexes.

Amplitude-integrated EEG colored according to spectral edge frequency.

Objective: To improve the interpretability of figures containing an amplitude-integrated electroencephalogram (aEEG), we devised a color scale that allows us to incorporate spectral edge frequency (SEF) information into aEEG figures. Preliminary clinical assessment of this novel technique, which we call aEEG/SEF, was performed using neonatal and early infantile seizure data.

Methods: We created aEEG, color density spectral array (DSA), and aEEG/SEF figures for focal seizures recorded in seven infants.

High-frequency oscillations in idiopathic partial epilepsy of childhood.

Purpose: We explored high-frequency oscillations (HFOs) in scalp sleep electroencephalography (EEG) studies of patients with idiopathic partial epilepsy (IPE) of childhood in order to obtain a better understanding of the pathologic mechanisms underlying IPE.

Methods: The subjects were 45 patients, including 32 with benign childhood epilepsy with centrotemporal spikes (BCECTS) and 13 with Panayiotopoulos syndrome (PS). A total of 136 EEG records were investigated through temporal expansion and filtering of traces and time-frequency spectral analysis.

STAT3 expression in activating EGFR-driven adenocarcinoma of the lung.

Bronchioloalveolar carcinoma (BAC) pattern is often seen at the margin of invasive adenocarcinomas. We investigated EGFR signaling abnormalities involved in the progression of adenocarcinoma. Fifty tumors were obtained from patients who underwent surgery for lung adenocarcinoma seen as dense areas in ground glass opacity on computed tomography.

Scalp-recorded high-frequency oscillations in childhood sleep-induced electrical status epilepticus.

Because high-frequency oscillations (HFOs) may affect normal brain functions, we examined them using electroencephalography (EEG) in epilepsy with continuous spike-waves during slow-wave sleep (CSWS), a condition that can cause neuropsychological regression. In 10 children between 6 and 9 years of age with epilepsy with CSWS or related disorders, we investigated HFOs in scalp EEG spikes during slow-wave sleep through temporal expansion of the EEG traces with a low-cut frequency filter at 70 Hz as well as through time-frequency power spectral analysis. HFOs (ripples) concurrent with spikes were detected in the temporally expanded traces, and the frequency of the high-frequency peak with the greatest power in each patient's spectra ranged from 97.