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Nocturnal frontal lobe epilepsy

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https://www.readbyqxmd.com/read/29213045/-an-effect-of-epilepsy-on-sleep-structure
#1
S G Khachatryan, Yu S Tunyan
In this review, the authors discuss the problem of management of the patient with epilepsy with regard an impact of epileptic seizures and syndromes on sleep structure. Sleep disorders can lead to worsening of seizure control and general medical condition of the patients. However, seizures themselves and types of epilepsy can affect the sleep architecture. One of the most frequent symptoms of disordered sleep in epilepsy patients is excessive daytime sleepiness, which can be a consequence of poor sleep quality due to frequent nocturnal seizures or excessive interictal epileptiform activity during sleep leading to frequent arousals...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29196579/clinical-and-molecular-characterization-of-kcnt1-related-severe-early-onset-epilepsy
#2
Amy McTague, Umesh Nair, Sony Malhotra, Esther Meyer, Natalie Trump, Elena V Gazina, Apostolos Papandreou, Adeline Ngoh, Sally Ackermann, Gautam Ambegaonkar, Richard Appleton, Archana Desurkar, Christin Eltze, Rachel Kneen, Ajith V Kumar, Karine Lascelles, Tara Montgomery, Venkateswaran Ramesh, Rajib Samanta, Richard H Scott, Jeen Tan, William Whitehouse, Annapurna Poduri, Ingrid E Scheffer, W K Kling Chong, J Helen Cross, Maya Topf, Steven Petrou, Manju A Kurian
OBJECTIVE: To characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset KCNT1 epilepsy. METHODS: We identified a cohort of 31 patients with epilepsy of infancy with migrating focal seizures (EIMFS) and screened for variants in KCNT1 using direct Sanger sequencing, a multiple-gene next-generation sequencing panel, and whole-exome sequencing. Additional patients with non-EIMFS early-onset epilepsy in whom we identified KCNT1 variants on local diagnostic multiple gene panel testing were also included...
December 1, 2017: Neurology
https://www.readbyqxmd.com/read/29196578/precision-therapy-for-epilepsy-due-to-kcnt1-mutations-a-randomized-trial-of-oral-quinidine
#3
Saul A Mullen, Patrick W Carney, Annie Roten, Michael Ching, Paul A Lightfoot, Leonid Churilov, Umesh Nair, Melody Li, Samuel F Berkovic, Steven Petrou, Ingrid E Scheffer
OBJECTIVE: To evaluate quinidine as a precision therapy for severe epilepsy due to gain of function mutations in the potassium channel gene KCNT1. METHODS: A single-center, inpatient, order-randomized, blinded, placebo-controlled, crossover trial of oral quinidine included 6 patients with severe autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) due to KCNT1 mutation. Order was block randomized and blinded. Four-day treatment blocks were used with a 2-day washout between...
December 1, 2017: Neurology
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
#4
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/28766701/rationale-for-an-adjunctive-therapy-with-fenofibrate-in-pharmacoresistant-nocturnal-frontal-lobe-epilepsy
#5
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
#6
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/28436626/-the-role-of-central-cholinergic-system-in-epilepsy
#7
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/28366665/the-phe932ile-mutation-in-kcnt1-channels-associated-with-severe-epilepsy-delayed-myelination-and-leukoencephalopathy-produces-a-loss-of-function-channel-phenotype
#8
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
#9
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/28268499/a-phases-subtype-detection-using-different-classification-methods
#10
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
#11
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/28027860/from-nocturnal-frontal-lobe-epilepsy-to-sleep-related-hypermotor-epilepsy-a-35-year-diagnostic-challenge
#12
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/27830187/germline-and-somatic-mutations-in-the-mtor-gene-in-focal-cortical-dysplasia-and-epilepsy
#13
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
#14
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/27336596/mutation-linked-to-autosomal-dominant-nocturnal-frontal-lobe-epilepsy-reduces-low-sensitivity-%C3%AE-4%C3%AE-2-and-increases-%C3%AE-5%C3%AE-4%C3%AE-2-nicotinic-receptor-surface-expression
#15
Weston A Nichols, Brandon J Henderson, Christopher B Marotta, Caroline Y Yu, Chris Richards, Dennis A Dougherty, Henry A Lester, Bruce N Cohen
A number of mutations in α4β2-containing (α4β2*) nicotinic acetylcholine (ACh) receptors (nAChRs) are linked to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), including one in the β2 subunit called β2V287L. Two α4β2* subtypes with different subunit stoichiometries and ACh sensitivities co-exist in the brain, a high-sensitivity subtype with (α4)2(β2)3 subunit stoichiometry and a low-sensitivity subtype with (α4)3(β2)2 stoichiometry. The α5 nicotinic subunit also co-assembles with α4β2 to form a high-sensitivity α5α4β2 nAChR...
2016: PloS One
https://www.readbyqxmd.com/read/27164717/definition-and-diagnostic-criteria-of-sleep-related-hypermotor-epilepsy
#16
REVIEW
Paolo Tinuper, Francesca Bisulli, J H Cross, Dale Hesdorffer, Philippe Kahane, Lino Nobili, Federica Provini, Ingrid E Scheffer, Laura Tassi, Luca Vignatelli, Claudio Bassetti, Fabio Cirignotta, Christopher Derry, Antonio Gambardella, Renzo Guerrini, Peter Halasz, Laura Licchetta, Mark Mahowald, Raffaele Manni, Carla Marini, Barbara Mostacci, Ilaria Naldi, Liborio Parrino, Fabienne Picard, Maura Pugliatti, Philippe Ryvlin, Federico Vigevano, Marco Zucconi, Samuel Berkovic, Ruth Ottman
The syndrome known as nocturnal frontal lobe epilepsy is recognized worldwide and has been studied in a wide range of clinical and scientific settings (epilepsy, sleep medicine, neurosurgery, pediatric neurology, epidemiology, genetics). Though uncommon, it is of considerable interest to practicing neurologists because of complexity in differential diagnosis from more common, benign sleep disorders such as parasomnias, or other disorders like psychogenic nonepileptic seizures. Moreover, misdiagnosis can have substantial adverse consequences on patients' lives...
May 10, 2016: Neurology
https://www.readbyqxmd.com/read/27123484/paroxysmal-hypnogenic-dyskinesia-is-associated-with-mutations-in-the-prrt2-gene
#17
Xiao-Rong Liu, Dan Huang, Jie Wang, Yi-Fan Wang, Hui Sun, Bin Tang, Wen Li, Jin-Xing Lai, Na He, Mei Wu, Tao Su, Heng Meng, Yi-Wu Shi, Bing-Mei Li, Bei-Sha Tang, Wei-Ping Liao
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...
April 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27066565/two-definite-cases-of-sudden-unexpected-death-in-epilepsy-in-a-family-with-a-depdc5-mutation
#18
Fábio A Nascimento, Felippe Borlot, Patrick Cossette, Berge A Minassian, Danielle M Andrade
The DEPDC5 gene (OMIM #614191), mapped to 22q12.2-q12.3, encodes the DEP domain-containing protein 5. DEPDC5 has been associated with a variety of familial epilepsies, including familial focal epilepsy with variable foci, autosomal dominant nocturnal frontal lobe epilepsy, familial temporal lobe epilepsy, epileptic spasms, and cortical dysplasia.(1-4) Notably, DEPDC5 has never been linked to increased risk of sudden unexpected death in epilepsy (SUDEP). We report a family with epilepsy due to DEPDC5 mutation and 2 definite cases of SUDEP within this family...
December 2015: Neurology. Genetics
https://www.readbyqxmd.com/read/27044618/pearls-oy-sters-diagnostic-challenges-in-nocturnal-frontal-lobe-epilepsy
#19
Fieke M E Cox, Gert Jan Lammers, Roland D Thijs, Gerhard H Visser
No abstract text is available yet for this article.
April 5, 2016: Neurology
https://www.readbyqxmd.com/read/27022307/progress-in-elucidating-the-pathophysiological-basis-of-nonrapid-eye-movement-parasomnias-not-yet-informing-therapeutic-strategies
#20
REVIEW
András Horváth, Anikó Papp, Anna Szűcs
Nonrapid eye movement (NREM) or arousal parasomnias are prevalent conditions in children and young adults, apparently provoked by any medical, physical, mental, or pharmacologic/toxic agent disturbing normal biorhythm and causing sleep fragmentation or abundant amount of slow wave sleep. The nadir and the ascending slope of the first sleep cycle of night sleep are the typical periods when NREM parasomnias, especially sleepwalking may occur on sleep-microstructural level; microarousals are the typical moments allowing NREM parasomnias...
2016: Nature and Science of Sleep
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