Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene.

Alternating hemiplegia of childhood (AHC) is a rare neurological disease mainly caused by mutations in the ATP1A3 gene and showing varied clinical severity according to genotype. Patients with a p.Gly755Ser (p.

Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA).

We administered perampanel (PER) to a bedridden 13-year-old male patient with dentatorubral-pallidoluysian atrophy (DRPLA). The DRPLA diagnosis was based on the presence of a CAG trinucleotide repeat in the gene. The patient experienced continuous myoclonic seizures and weekly generalized tonic-clonic seizures (GTCs).

The presence of short and sharp MEG spikes implies focal cortical dysplasia.

Purpose: This study focused on the characteristic needle-like epileptic spikes of short duration and steep shape seen on magnetoencephalography (MEG) in patients diagnosed with focal cortical dysplasia (FCD) morphologically. We aimed to validate the analysis of MEG spike morphology as a noninvasive method of identifying the presence and location of FCD.

Methods: MEG was collected by 204-channel helmet-shaped gradiometers.

Advantageous information provided by magnetoencephalography for patients with neocortical epilepsy.

Purpose: We evaluated whether magnetoencephalography (MEG), in addition to surgery, was valuable for the diagnosis and management of epileptic syndromes in patients with neocortical epilepsy (NE).

Methods: We studied MEG in 73 patients (29 females; aged 1-26years; mean 10.3years) for the clinical diagnosis of epilepsy and for preoperative evaluation.

Magnetoencephalographic analysis of paroxysmal fast activity in patients with epileptic spasms.

Purpose: This study sought to demonstrate the origin and propagation of paroxysmal fast activity (PFA) in patients with epileptic spasms (ESs), using time-frequency analyses of magnetoencephalogram (MEG) PFA recordings.

Methods: A 204-channel helmet-shaped MEG, with a 600Hz sampling rate, was used to examine PFA in 3 children with ESs. We analyzed MEG recordings of PFA by short-time Fourier transform and the aberrant area or high-power spectrum was superimposed onto reconstructed three-dimensional magnetic resonance images as moving images.

Direct correlation between the facial nerve nucleus and hemifacial seizures associated with a gangliocytoma of the floor of the fourth ventricle: a case report.

A dysplastic neuronal lesion of the floor of the fourth ventricle (DNFFV) causes hemifacial seizures (HFS) from early infancy. However, it is still controversial whether HFS is generated by the facial nerve nucleus or cerebellar cortex. In this study, we confirm a direct correlation between the rhythmic activities in the DNFFV and HFS using intraoperative electroencephalography (EEG) and electromyography (EMG) monitoring.

The applications of time-frequency analyses to ictal magnetoencephalography in neocortical epilepsy.

Purpose: Ictal magenetoencephalographic (MEG) discharges convey significant information about ictal onset and propagation, but there is no established method for analyzing ictal MEG. This study sought to clarify the usefulness of time-frequency analyses using short-time Fourier transform (STFT) for ictal onset and propagation of ictal MEG activity in patients with neocortical epilepsy.

Methods: Four ictal MEG discharges in two patients with perirolandic epilepsy and one with frontal lobe epilepsy (FLE) were evaluated by time-frequency analyses using STFT.

MEG time-frequency analyses for pre- and post-surgical evaluation of patients with epileptic rhythmic fast activity.

Purpose: To evaluate the effectiveness of surgery for epilepsy, we analyzed rhythmic fast activity by magnetoencephalography (MEG) before and after surgery using time-frequency analysis. To assess reliability, the results obtained by pre-surgical MEG and intraoperative electrocorticography were compared.

Methods: Four children with symptomatic localization-related epilepsy caused by circumscribed cortical lesion were examined in the present study using 204-channel helmet-shaped MEG with a sampling rate of 600Hz.

[(11)C]flumazenil positron emission tomography analyses of brain gamma-aminobutyric acid type A receptors in Angelman syndrome.

Objective: To evaluate the role of the gamma-aminobutyric acid type A (GABA(A)) receptor in Angelman syndrome (AS).

Study Design: We performed [(11)C]flumazenil positron emission tomography (PET) and examined GABA(A) receptor expression in 7 patients with AS of various genotypes (5 with the deletion, 1 with an imprinting defect [ID], and 1 with a UBE3A mutation) and 4 normal control healthy volunteers.

Results: Relative to the control subjects, the [(11)C]flumazenil binding potentials (BPs) were significantly higher in the cerebral cortex and cerebellum in the 5 patients with the deletion and in the 1 patient with a UBE3A mutation, and were less frequently or barely increased in adult patients with the deletion and in the patient with IDs.

Aberrant somatosensory-evoked responses imply GABAergic dysfunction in Angelman syndrome.

A role for gamma-aminobutyric acid (GABA)ergic inhibition in cortical sensory processing is one of the principle concerns of brain research. Angelman syndrome (AS) is thought to be one of the few neurodevelopmental disorders with GABAergic-related genetic involvement. AS results from a functional deficit of the imprinted UBE3A gene, located at 15q11-q13, resulting mainly from a 4-Mb deletion that includes GABA(A) receptor subunit genes.

Possible involvement of the tip of temporal lobe in Landau-Kleffner syndrome.

Landau-Kleffner syndrome (LKS) is a childhood disorder of unknown etiology characterized by an acquired aphasia and epilepsy. We have performed comprehensive neurofunctional studies on an 8-year-old girl with typical LKS, with the aim of identifying lesions that may be responsible for her condition. 18F-fluoro-D-glucose (FDG) positron emission computed tomography (PET), 11C-Flumazenil (FMZ) PET, 99mTc-hexamethylpropyleneamine oxime single photon emission computed tomography (SPECT) and magnetoencephalography were performed before and after changes to the patient's medication led to a clinical improvement.

Application of magnetoencephalography in epilepsy patients with widespread spike or slow-wave activity.

Purpose: To examine whether magnetoencephalography (MEG) can be used to determine patterns of brain activity underlying widespread paroxysms of epilepsy patients, thereby extending the applicability of MEG to a larger population of epilepsy patients.

Methods: We studied two children with symptomatic localization-related epilepsy. Case 1 had widespread spikes in EEG with an operation scar from a resection of a brain tumor; Case 2 had hemispheric slow-wave activity in EEG with sensory auras.

Dynamic statistical parametric mapping for analyzing the magnetoencephalographic epileptiform activity in patients with epilepsy.

Our current purpose is to evaluate the applicability of dynamic statistical parametric mapping, a novel method for localizing epileptiform activity recorded with magnetoencephalography in patients with epilepsy. We report four pediatric patients with focal epilepsies. Magnetoencephalographic data were collected with a 306-channel whole-head helmet-shaped sensor array.