Nfle

PURPOSE: Patients with epilepsy frequently experience autonomic dysfunction, closely related to sudden unexplained death in epilepsy (SUDEP). SUDEP occurs most often at night or during sleep, and frequent nocturnal seizures are an established risk factor. This study investigated the influence of nocturnal seizures on autonomic dysfunction in epilepsy. PATIENTS AND METHODS: This retrospective study enrolled frontal lobe epilepsy (FLE) patients who performed 24-hour EEG monitoring...

The Cyclic Alternating Pattern (CAP) can be considered a physiological marker of sleep instability. The CAP can examine various sleep-related disorders. Certain short events (A and B phases) manifest related to a specific physiological process or pathology during non-rapid eye movement (NREM) sleep. These phases unexpectedly modify EEG oscillations; hence, manual detection is challenging. Therefore, it is highly desirable to have an automated system for detecting the A-phases (AP). Deep convolution neural networks (CNN) have shown high performance in various healthcare applications...

Sleep contributes to more than a third of a person's life, making sleep monitoring essential for overall well-being. Cyclic alternating patterns (CAP) are crucial in monitoring sleep quality and associated illnesses such as insomnia, nocturnal frontal lobe epilepsy (NFLE), narcolepsy, etc. However, traditionally medical specialists practice manual division techniques of CAP phases which are sensitive to human weariness and inaccuracies. This might result in a false sleep stage diagnosis. This study proposes an automated approach using a deep learning model based on a 1-dimensional convolutional neural network for classifying CAP phases (A and B)...

Sleep is imperative for a healthy life as it rejuvenates memory, cognitive performance, cell repair and eliminates waste from the muscles. Sleep-related disorders such as insomnia, narcolepsy, sleep-disordered breathing (SDB), periodic leg movement (PLM), and bruxism lead to hormonal imbalance, slower reaction time, memory problems, depression, and headaches. This adversity of sleep disorder gained the attention of many sleep researchers. To examine the reasons for sleep disorders, it is imperative to monitor and analyze the sleep of the affected patients...

Sleep is highly essential for maintaining metabolism of the body and mental balance for increased productivity and concentration. Often, sleep is analyzed using macrostructure sleep stages which alone cannot provide information about the functional structure and stability of sleep. The cyclic alternating pattern (CAP) is a physiological recurring electroencephalogram (EEG) activity occurring in the brain during sleep and captures microstructure of the sleep and can be used to identify sleep instability. The CAP can also be associated with various sleep-related pathologies, and can be useful in identifying various sleep disorders...

Sleep stage classification plays a pivotal role in effective diagnosis and treatment of sleep related disorders. Traditionally, sleep scoring is done manually by trained sleep scorers. The analysis of electroencephalogram (EEG) signals recorded during sleep by clinicians is tedious, time-consuming and prone to human errors. Therefore, it is clinically important to score sleep stages using machine learning techniques to get accurate diagnosis. Several studies have been proposed for automated detection of sleep stages...

The 15q13.3 microdeletion (microdel15q13.3) syndrome (OMIM 612001) has been reported in healthy subjects as well as in individuals with a wide spectrum of clinical manifestations ranging from mild to severe neurological disorders, including developmental delay/intellectual disability, autism spectrum disorder, schizophrenia, epilepsy, behavioral problems and speech dysfunction. This study explored the link between this genomic rearrangement and nocturnal frontal lobe epilepsy (NFLE), which could improve the clinical interpretation...

The Chenyulan watershed, located in the central mountain area of Taiwan, has been suffering from earthquakes, typhoons, and heavy rainfalls in recent decades. These sequential natural disturbances have a cumulative impact on the watershed, leading to more fragile and fragmented land cover and loss of capacity of soil water conservation. In this study, the Soil and Water Assessment Tool (SWAT) and a landscape metrics tool (FRAGSTATS) were used to assess the direct impact (e.g., by annual rainfall) and indirect impact (e...

Sleep-related hypermotor epilepsy (SHE), previously called nocturnal frontal lobe epilepsy (NFLE), is a focal epilepsy characterized by asymmetric tonic/dystonic posturing and/or complex hyperkinetic seizures occurring mostly during sleep. SHE fulfills the definition of rare disease with an estimated minimum prevalence of 1.8/100,000 individuals, and it represents about 10% of drug-resistant surgical cases. Although SHE and autosomal-dominant SHE (ADSHE) have been considered benign epileptic conditions for a long time, emerging data have shed light on the severity of this disorder and some peculiar features can impact negatively on the quality of life of SHE patients...

BACKGROUND: Nocturnal frontal lobe epilepsy (NFLE) is a focal epilepsy with seizures arising mainly during sleep and characterized by complex motor behavior or sustained dystonic posturing. First described in 1981, it was considered a motor disorder of sleep and was indicated as nocturnal paroxysmal dystonia (NPD). The debated on epileptic origin of this condition was demonstrated in 1990 and the term NFLE was introduced. Since then it has been demonstrated that the heterogeneous aspects of morpheic seizures were responsive to antiepileptic drugs (AED's) with sodium blocking action mechanism, especially the carbamazepine (CBZ)...

OBJECTIVE: Electroencephalography (EEG) is widely employed in the study of sleep disorders. This paper exploits the identification of cyclic alternating patterns (CAPs), a periodic ubiquitous phenomenon nested in the sleep stages, to analyze the EEG spectral coherence in subjects affected by nocturnal frontal lobe epilepsy (NFLE) and healthy controls. METHODS: For each EEG recording, we extracted several CAP A1 subtype 4 s time series. We analyze the coherence between each pair of electrodes for each individual to obtain its distribution for each frequency range of interest to investigate differences between cases and controls...

PURPOSE: To report two additional cases of sporadic (i.e. non-familial) Nocturnal Frontal Lobe Epilepsy (NFLE) and integrate these two cases within the first series of 10 cases of sporadic NFLE reported in Taiwanese patients, and compare the findings with familial NFLE and with findings from Caucasian NFLE patients. METHODS: Clinical interviews, neurological examinations, EEG, brain MRI, and overnight videopolysomnographic (vPSG) monitoring with EEG seizure montage, and treatment outcome...

OBJECTIVE: Nocturnal frontal lobe epilepsy (NFLE) is an idiopathic partial epilepsy with a family history in about 25% of cases, with autosomal dominant inheritance (autosomal dominant NFLE [ADNFLE]). Traditional antiepileptic drugs are effective in about 55% of patients, whereas the rest remains refractory. One of the key pathogenetic mechanisms is a gain of function of neuronal nicotinic acetylcholine receptors (nAChRs) containing the mutated α4 or β2 subunits. Fenofibrate, a common lipid-regulating drug, is an agonist at peroxisome proliferator-activated receptor alpha (PPARα) that is a ligand-activated transcription factor, which negatively modulates the function of β2-containing nAChR...

Nocturnal frontal lobe epilepsy (NFLE) is a focal epilepsy with seizures arising mainly during sleep and characterized by complex, often bizarre, motor behavior or sustained dystonic posturing. First described in 1981, it was initially considered a motor disorder of sleep and was named nocturnal paroxysmal dystonia (NPD). The unusual seizure semiology, onset during sleep, and often uninformative scalp EEG and brain MRI make it difficult to distinguish NPD attacks from other non-epileptic nocturnal paroxysmal events, namely parasomnias...

OBJECTIVE: To explore the potential causative genes of paroxysmal hypnogenic dyskinesia (PHD), which was initially considered a subtype of paroxysmal dyskinesia and has been recently considered a form of nocturnal frontal lobe epilepsy (NFLE). METHODS: Eleven patients with PHD were recruited. Mutations in proline-rich region transmembrane protein-2 (PRRT2), myofibrillogenesis regulator 1 (MR-1), solute carrier family 2, member 1 (SLC2A1), calcium-activated potassium channel alpha subunit (KCNMA1), cholinergic receptor, nicotinic, alpha 4 (CHRNA4), cholinergic receptor, nicotinic, beta 2 (CHRNB2), cholinergic receptor, nicotinic, alpha 2 (CHRNA2), and potassium channel subfamily T member 1 (KCNT1) were screened by direct sequencing...

The aim of this paper is to assess heart rate variability (HRV) during the cyclic alternating pattern, which is a sleep phenomenon, composed by cortical events that interrupt the basal oscillation of the NREM sleep stage. These cortical events are called A-phases and classified into three subtypes: A1, A2, A3. In addition, a comparison between healthy and Nocturnal Front Lobe Epilepsy (NFLE) patients was carried out. HRV was assessed by means of a time-varying autoregressive (TVAR) model with an adaptive filtering prediction scheme and by the time-varying square root of the mean of the sum of the squares of differences (RMSSD) of the RR intervals...

Previously characterized nicotinic acetylcholine receptor (nAChR) autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)-associated mutations are found in α2, α4 and β2 subunit transmembrane (TM) domains. They predominantly increase ACh potency and, for β2-subunit mutants, increase macroscopic currents. Two recently-identified mutations, α4(R336H) and β2(V337G), located in the intracellular cytoplasmic loop (C2) have been associated with non-familial NFLE. Effects of these mutations on α4β2-nAChR function and expression were studied for the first time, using two-electrode voltage clamp recordings in Xenopus laevis oocytes...

OBJECTIVE: Nocturnal frontal lobe epilepsy (NFLE) can be sporadic or autosomal dominant; some families have nicotinic acetylcholine receptor subunit mutations. We report a novel autosomal recessive phenotype in a single family and identify the causative gene. METHODS: Whole exome sequencing data was used to map the family, thereby narrowing exome search space, and then to identify the mutation. RESULTS: Linkage analysis using exome sequence data from two affected and two unaffected subjects showed homozygous linkage peaks on chromosomes 7, 8, 13, and 14 with maximum LOD scores between 1...

System epilepsy is an emerging concept interpreting major nonlesional epilepsies as epileptic dysfunctions of physiological systems. I extend here the concept of reflex epilepsy to epilepsies linked to input dependent physiological systems. Experimental and clinical reseach data were collected to create a coherent explanation of underlying pathomechanism in AE and NFLE. We propose that AE should be interpreted as epilepsy linked to the corticothalamic burst-firing mode of NREM sleep, released by evoked vigilance level oscillations characterized by reactive slow wave response...

Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated with KCNT1, we examined individuals affected with focal epilepsy or an epileptic encephalopathy for mutations in the gene. We identified KCNT1 mutations in 12 previously unreported patients with focal epilepsy, multifocal epilepsy, cardiac arrhythmia, and in a family with sudden unexpected death in epilepsy (SUDEP), in addition to patients with NFLE and MMFSI...