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https://www.readbyqxmd.com/read/29108277/exome-sequencing-identified-a-novel-missense-mutation-c-464g-a-p-g155d-in-ca-2-binding-protein-4-cabp4-in-a-chinese-pedigree-with-autosomal-dominant-nocturnal-frontal-lobe-epilepsy
#1
Zhi-Hong Chen, Chun Wang, Mu-Qing Zhuo, Qiong-Xiang Zhai, Qian Chen, Yu-Xiong Guo, Yu-Xin Zhang, Juan Gui, Zhi-Hong Tang, Xiao-Lu Zeng
The aim of this study was to identify disease-causing gene mutations in a Chinese family affected with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), a 4-generation pedigree of 27 members in the Southern Chinese Han population, including 11 individuals diagnosed with ADNFLE. DNA samples were collected from 15 family members, chinese han people, including seven affected and eight unaffected individuals. None of these patients had night blindness or visual disorders. Four affected individuals were screened for mutations using whole-exome sequencing, and 13 potentially interesting mutations shared by all the four affected individuals were validated using the Sanger sequencing method...
October 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28892547/non-rapid-eye-movement-arousal-parasomnias-in-children
#2
Vijayabharathi Ekambaram, Kiran Maski
Parasomnia is a common pediatric sleep disorder that can cause parents or caregivers distress when experienced by their children. Based on the International Classification of Sleep Disorders, parasomnias can be divided into two subgroups: non-rapid eye movement (NREM) parasomnias and rapid eye movement (REM) parasomnias. REM sleep parasomnias include nightmares, REM behavior disorder, and sleep paralysis, whereas NREM sleep parasomnias include disorders of arousal such as confusional arousals, sleepwalking, sleep talking, night terrors, and sleep-related eating disorder...
September 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28766701/rationale-for-an-adjunctive-therapy-with-fenofibrate-in-pharmacoresistant-nocturnal-frontal-lobe-epilepsy
#3
Monica Puligheddu, Miriam Melis, Giuliano Pillolla, Giulia Milioli, Liborio Parrino, Giovanni Mario Terzano, Sonia Aroni, Claudia Sagheddu, Francesco Marrosu, Marco Pistis, Anna Lisa Muntoni
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...
October 2017: Epilepsia
https://www.readbyqxmd.com/read/28720085/my-child-cannot-breathe-while-sleeping-a-report-of-three-cases-and-review
#4
Won Hee Seo, Minkyu Park, So-Hee Eun, Seonkyeong Rhie, Dae Jin Song, Kyu-Young Chae
BACKGROUND: Sudden breath-holding episodes during sleep in young children are potentially related to sudden infant death syndrome and other life-threatening events. Additionally, these episodes can negatively affect child's growth and development. CASE PRESENTATION: Here, we present 3 cases of preschool children with similar paroxysmal nocturnal waking events associated with choking that had different etiologies (nocturnal frontal lobe epilepsy, nocturnal gastroesophageal reflux disease, and parasomnia, respectively)...
July 18, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28691719/narcolepsy-type-1-and-hypersomnia-associated-with-a-psychiatric-disorder-show-different-slow-wave-activity-dynamics
#5
Ewa Walacik-Ufnal, Anna Justyna Piotrowska, Dorota Wołyńczyk-Gmaj, Piotr Januszko, Bartłomiej Gmaj, Marcin Ufnal, Marek Kabat, Marcin Wojnar
The aim of the study was to compare electrophysiological parameters of night sleep in narcolepsy type 1 and hypersomnia associated with a psychiatric disorder. Fortyfour patients: 15 with narcolepsy type 1, 14 with hypersomnia associated with a psychiatric disorder and 15 age- and sex-matched controls participated in the study. The study subjects filled in the Athens Insomnia Scale (AIS) and the Beck Depression Inventory (BDI). The severity of daytime sleepiness was quantified subjectively using the Epworth Sleepiness Scale (ESS) and the Stanford Sleepiness Scale (SSS), and objectively using the Multiple Sleep Latency Test (MSLT)...
2017: Acta Neurobiologiae Experimentalis
https://www.readbyqxmd.com/read/28683344/age-related-sleep-nocturnal-tonic-and-tonic-clonic-seizure-clusters-are-underdiagnosed-in-patients-with-dravet-syndrome
#6
Emma Losito, Matthieu Kuchenbuch, Nicole Chemaly, Jacques Laschet, Catherine Chiron, Anna Kaminska, Rima Nabbout
OBJECTIVES: To describe the semiology and EEG characteristics of the age-related pattern of sleep/nocturnal (S/N) seizures in patients with Dravet Syndrome (DS). METHODS: We retrospectively analysed the clinical and EEG data of DS patients followed at our reference centre for Rare Epilepsies. We included patients aged two years and older who fulfilled clinical and EEG criteria of DS (ILAE 1989). Genetic testing for SCN1A was done in all, followed by PCDH19 if this was negative...
July 3, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28463934/occipito-frontal-sharp-waves-an-under-recognized-electroencephalogram-pattern-in-self-limited-idiopathic-childhood-focal-epilepsy
#7
Elaine Wyllie, Ahsan N V Moosa
We report four children who highlight the potentially under-recognized electroencephalogram pattern of bilaterally synchronous occipito-frontal sharp waves, which may occur in children with Panayiotopoulos type self-limited childhood epilepsy but may be easily confused with the patterns of symptomatic generalized epilepsy. Our patients were young, healthy children who had infrequent, predominantly nocturnal, fairly prolonged seizures characterized by altered consciousness, vomiting, and autonomic features, or in one case nocturnal secondary generalized tonic-clonic convulsion...
May 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28436626/-the-role-of-central-cholinergic-system-in-epilepsy
#8
Ying Wang, Yi Wang, Zhong Chen
Epilepsy is a chronic neurological disorder, which is not only related to the imbalance between excitatory glutamic neurons and inhibitory GABAergic neurons, but also related to abnormal central cholinergic regulation. This article summarizes the scientific background and experimental data about cholinergic dysfunction in epilepsy from both cellular and network levels, further discusses the exact role of cholinergic system in epilepsy. In the cellular level, several types of epilepsy are believed to be associated with aberrant metabotropic muscarinic receptors in several different brain areas, while the mutations of ionotropic nicotinic receptors have been reported to result in a specific type of epilepsy-autosomal dominant nocturnal frontal lobe epilepsy...
January 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/28395403/-distribution-of-electroencephalograph-power-density-in-patients-with-severe-obstructive-sleep-apnea-during-different-sleep-stages
#9
Y Deng, X Tian, B Y Chen, N Zhou, M Xia, W W Bai, M M Dou, X Y Liu
Objective: To investigate the variation of electroencephalograph(EEG) power density during different sleep stages in OSA for understanding of the mechanisms underlying the brain dysfunction in OSA as well as its earlier diagnosis and treatment. Methods: Sixteen-channel EEGs from OSA patients and normal controls in stage wake, sleep stage 1, sleep stage 2, sleep stage 3 and rapid eye movement stage were analyzed by time-frequency analysis method. The EEG power density in different frequency bands (including δ, θ, α, σ, β and γ) was respectively compared between the 2 groups...
April 12, 2017: Chinese Journal of Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/28366665/the-phe932ile-mutation-in-kcnt1-channels-associated-with-severe-epilepsy-delayed-myelination-and-leukoencephalopathy-produces-a-loss-of-function-channel-phenotype
#10
Katherine M Evely, Kerri D Pryce, Arin Bhattacharjee
Sodium-activated potassium (KNa) channels contribute to firing frequency adaptation and slow after hyperpolarization. The KCNT1 gene (also known as SLACK) encodes a KNa subunit that is expressed throughout the central and peripheral nervous systems. Missense mutations of the SLACK C-terminus have been reported in several patients with rare forms of early onset epilepsy and in some cases severely delayed myelination. To date, such mutations identified in patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), epilepsy of infancy with migrating focal seizures (EIMFS) and Ohtahara syndrome (OS) have been reported to be gain-of-function mutations (Villa and Combi, 2016)...
May 20, 2017: Neuroscience
https://www.readbyqxmd.com/read/28364515/prevalence-of-sleep-related-hypermotor-epilepsy-formerly-named-nocturnal-frontal-lobe-epilepsy-in-the-adult-population-of-the-emilia-romagna-region-italy
#11
Luca Vignatelli, Francesca Bisulli, Giada Giovannini, Laura Licchetta, Ilaria Naldi, Barbara Mostacci, Guido Rubboli, Federica Provini, Paolo Tinuper, Stefano Meletti
No abstract text is available yet for this article.
February 1, 2017: Sleep
https://www.readbyqxmd.com/read/28326122/preliminary-study-on-quantitative-sleep-eeg-characteristics-in-patients-with-schizophrenia
#12
Seong Min Oh, Yu Jin Lee, Jong Won Kim, Jae Won Choi, Do-Un Jeong
We used quantitative electroencephalography (EEG) spectral analysis to compare activity in the bilateral frontal, central, and occipital areas in nine patients with schizophrenia and ten healthy control subjects during standard nocturnal polysomnography. Patients with schizophrenia had longer sleep latency than controls. In N2 sleep, the patients had significantly lower 0.5-1 Hz power and higher theta power in the left frontal region, and higher beta power in the left occipital region than did control subjects...
March 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/28268499/a-phases-subtype-detection-using-different-classification-methods
#13
Fatima Machado, Cesar Teixeira, Clara Santos, Conceicao Bento, Francisco Sales, Antonio Dourado
Cyclic alternating patterns (CAPs) occur during normal sleep, but higher CAP rates are associated with abnormal conditions, such as epilepsy. Efficient automatic classification of CAP A-phase sub-types would be of remarkable importance for the consideration of CAP as a disease bio-marker. This paper reports a multi-step methodology for the classification of A-phases subtypes. The methodology encompasses: feature extraction, feature ranking, and classification (Support Vector Machine (SVM), k-Nearest Neighbor (k-NN) and Discriminant Analysis (DA))...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226673/a-phases-subtype-detection-using-different-classification-methods
#14
Fatima Machado, Cesar Teixeira, Clara Santos, Conceicao Bento, Francisco Sales, Antonio Dourado, Fatima Machado, Cesar Teixeira, Clara Santos, Conceicao Bento, Francisco Sales, Antonio Dourado, Clara Santos, Fatima Machado, Conceicao Bento, Cesar Teixeira, Francisco Sales, Antonio Dourado
Cyclic alternating patterns (CAPs) occur during normal sleep, but higher CAP rates are associated with abnormal conditions, such as epilepsy. Efficient automatic classification of CAP A-phase sub-types would be of remarkable importance for the consideration of CAP as a disease bio-marker. This paper reports a multi-step methodology for the classification of A-phases subtypes. The methodology encompasses: feature extraction, feature ranking, and classification (Support Vector Machine (SVM), k-Nearest Neighbor (k-NN) and Discriminant Analysis (DA))...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28150809/selective-binocular-vision-loss-in-two-subterranean-caviomorph-rodents-spalacopus-cyanus-and-ctenomys-talarum
#15
T Vega-Zuniga, F S Medina, G Marín, J C Letelier, A G Palacios, P Němec, C E Schleich, J Mpodozis
To what extent can the mammalian visual system be shaped by visual behavior? Here we analyze the shape of the visual fields, the densities and distribution of cells in the retinal ganglion-cell layer and the organization of the visual projections in two species of facultative non-strictly subterranean rodents, Spalacopus cyanus and Ctenomys talarum, aiming to compare these traits with those of phylogenetically closely related species possessing contrasting diurnal/nocturnal visual habits. S. cyanus shows a definite zone of frontal binocular overlap and a corresponding area centralis, but a highly reduced amount of ipsilateral retinal projections...
February 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28027860/from-nocturnal-frontal-lobe-epilepsy-to-sleep-related-hypermotor-epilepsy-a-35-year-diagnostic-challenge
#16
REVIEW
Paolo Tinuper, Francesca Bisulli
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...
January 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27940753/a-5-year-old-with-fever-headache-neck-stiffness-and-leg-pain
#17
Joy Solano, Grace Winningham, Duha Al Zubeidi, Angela Myers
A 5-year-old boy presented with fever, headache, fatigue, neck stiffness, and 2 episodes of nocturnal urinary incontinence, prompting a visit to the emergency department. He had experienced intermittent frontal headaches and leg and buttock pain for several months, which had worsened over the previous 2 weeks. His history was notable for a spinal hemangioma with vascular tract, but he was otherwise healthy. On examination, he was febrile and tachycardic. He held his neck slightly rotated to the right with limited range of motion in all directions due to pain...
November 2016: Pediatrics
https://www.readbyqxmd.com/read/27830187/germline-and-somatic-mutations-in-the-mtor-gene-in-focal-cortical-dysplasia-and-epilepsy
#18
Rikke S Møller, Sarah Weckhuysen, Mathilde Chipaux, Elise Marsan, Valerie Taly, E Martina Bebin, Susan M Hiatt, Jeremy W Prokop, Kevin M Bowling, Davide Mei, Valerio Conti, Pierre de la Grange, Sarah Ferrand-Sorbets, Georg Dorfmüller, Virginie Lambrecq, Line H G Larsen, Eric Leguern, Renzo Guerrini, Guido Rubboli, Gregory M Cooper, Stéphanie Baulac
OBJECTIVE: To assess the prevalence of somatic MTOR mutations in focal cortical dysplasia (FCD) and of germline MTOR mutations in a broad range of epilepsies. METHODS: We collected 20 blood-brain paired samples from patients with FCD and searched for somatic variants using deep-targeted gene panel sequencing. Germline mutations in MTOR were assessed in a French research cohort of 93 probands with focal epilepsies and in a diagnostic Danish cohort of 245 patients with a broad range of epilepsies...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27784407/prevalence-of-sleep-related-hypermotor-epilepsy-she-formerly-named-nocturnal-frontal-lobe-epilepsy-in-the-adult-population-of-the-emilia-romagna-region-italy
#19
Luca Vignatelli, Francesca Bisulli, Giada Giovannini, Laura Licchetta, Ilaria Naldi, Barbara Mostacci, Guido Rubboli, Federica Provini, Paolo Tinuper, Stefano Meletti
No abstract text is available yet for this article.
October 20, 2016: Sleep
https://www.readbyqxmd.com/read/27662337/occipito-frontal-sharp-waves-an-under-recognized-eeg-pattern-in-self-limited-idiopathic-childhood-focal-epilepsy
#20
Elaine Wyllie, Ahsan Nv Moosa
We report four children who highlight the potentially under-recognized EEG pattern of bilaterally synchronous occipito-frontal sharp waves, which may occur in children with Panayiotopoulos-type self-limited childhood epilepsy but may be easily confused with the patterns of symptomatic generalized epilepsy. Our patients were young, healthy children who had infrequent, predominantly nocturnal, fairly prolonged seizures characterized by altered consciousness, vomiting, and autonomic features, or in one case nocturnal secondary generalized tonic clonic convulsion...
September 16, 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
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