keyword
MENU ▼
Read by QxMD icon Read
search

Nfle

keyword
https://www.readbyqxmd.com/read/27123484/paroxysmal-hypnogenic-dyskinesia-is-associated-with-mutations-in-the-prrt2-gene
#1
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: Neurol Genet
https://www.readbyqxmd.com/read/26737645/heart-rate-variability-in-cyclic-alternating-pattern-during-sleep-in-healthy-and-nocturnal-front-lobe-epilepsy-patients
#2
Guadalupe Dorantes, Martín Méndez, Alfonso Alba, J S Gonzaáez, Liborio Parrino, G Milioli
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...
2015: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/26561946/distinctive-effects-of-nicotinic-receptor-intracellular-loop-mutations-associated-with-nocturnal-frontal-lobe-epilepsy
#3
Maegan M Weltzin, Jon M Lindstrom, Ronald J Lukas, Paul Whiteaker
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...
March 2016: Neuropharmacology
https://www.readbyqxmd.com/read/26339676/prima1-mutation-a-new-cause-of-nocturnal-frontal-lobe-epilepsy
#4
Michael S Hildebrand, Rick Tankard, Elena V Gazina, John A Damiano, Kate M Lawrence, Hans-Henrik M Dahl, Brigid M Regan, Aiden Eliot Shearer, Richard J H Smith, Carla Marini, Renzo Guerrini, Angelo Labate, Antonio Gambardella, Paolo Tinuper, Laura Lichetta, Sara Baldassari, Francesca Bisulli, Tommaso Pippucci, Ingrid E Scheffer, Christopher A Reid, Steven Petrou, Melanie Bahlo, Samuel F Berkovic
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...
August 2015: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/26175547/are-absence-epilepsy-and-nocturnal-frontal-lobe-epilepsy-system-epilepsies-of-the-sleep-wake-system
#5
REVIEW
Péter Halász
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...
2015: Behavioural Neurology
https://www.readbyqxmd.com/read/26122718/mutations-in-kcnt1-cause-a-spectrum-of-focal-epilepsies
#6
Rikke S Møller, Sarah E Heron, Line H G Larsen, Chiao Xin Lim, Michael G Ricos, Marta A Bayly, Marjan J A van Kempen, Sylvia Klinkenberg, Ian Andrews, Kent Kelley, Gabriel M Ronen, David Callen, Jacinta M McMahon, Simone C Yendle, Gemma L Carvill, Heather C Mefford, Rima Nabbout, Annapurna Poduri, Pasquale Striano, Maria G Baglietto, Federico Zara, Nicholas J Smith, Clair Pridmore, Elena Gardella, Marina Nikanorova, Hans Atli Dahl, Pia Gellert, Ingrid E Scheffer, Boudewijn Gunning, Bente Kragh-Olsen, Leanne M Dibbens
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...
September 2015: Epilepsia
https://www.readbyqxmd.com/read/25975508/analysis-of-the-chrna7-gene-mutation-and-polymorphism-in-southern-han-chinese-patients-with-nocturnal-frontal-epilepsy
#7
Zhi-Hong Chen, Chun Wang, Lin-Gan Wang, Mu-Qing Zhuo, Zhi-Hong Tang, Qiong-Xiang Zhai, Qian Chen, Yu-Xiong Guo, Yu-Xin Zhang
OBJECTIVE: To detect the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal lobe epilepsy (NFLE). METHODS: Blood samples were collected from 215 Southern Han Chinese patients with NFLE and 200 healthy Southern Han Chinese control subjects. Genomic DNA was extracted, and CHRNA7 whole genome exons were amplified by the polymerase chain reaction and subjected to Sanger sequencing. RESULTS: No CHRNA7 gene mutation was detected in all of the NFLE patients...
April 2015: Asian Pacific Journal of Tropical Medicine
https://www.readbyqxmd.com/read/25902821/sleep-related-hypermotor-seizures-with-a-right-parietal-onset
#8
Steve A Gibbs, Michela Figorilli, Giuseppe Casaceli, Paola Proserpio, Lino Nobili
Nocturnal frontal lobe epilepsy (NFLE) is a syndrome characterized by the occurrence of sleep related seizures of variable complexity and duration. Hypermotor seizures (HMS) represent a classic manifestation of this syndrome, associated with a perturbation of the ventromesial frontal cortex and anterior cingulate gyrus regions. Nevertheless, in recent years, reports have showed that the seizure onset zone (SOZ) need not be of frontal origin to generate HMS. Here we report an unusual case of a patient presenting with a seven-year history of drug-resistant sleep related HMS arising from the mesial parietal region...
August 2015: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/25830116/long-term-surgery-outcome-for-epilepsy-and-psychogenic-nonepileptic-seizures-in-a-child-with-anterior-cingulate-gyrus-dysplasia
#9
Laura Mirandola, Stefano Meletti, Gaetano Cantalupo
We present the case of a 13-year-old child with nocturnal frontal lobe epilepsy (NFLE) related to a right cingulate gyrus cortical dysplasia, who also presented with psychogenic nonepileptic seizures (PNES) and interictal antisocial behavior. The association of drug-resistant epilepsy with behavioral disorders is well established, but the role of epilepsy surgery in these patients is still controversial, especially in children. The key finding is represented by the excellent long-term outcome on both epilepsy and behavioral dysfunction after the surgical excision of the cingulate gyrus cortical dysplasia...
2015: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/25770198/nocturnal-frontal-lobe-epilepsy-with-paroxysmal-arousals-due-to-chrna2-loss-of-function
#10
Valerio Conti, Patrizia Aracri, Laura Chiti, Simone Brusco, Francesco Mari, Carla Marini, Maria Albanese, Angela Marchi, Claudio Liguori, Fabio Placidi, Andrea Romigi, Andrea Becchetti, Renzo Guerrini
OBJECTIVE: We assessed the mutation frequency in nicotinic acetylcholine receptor (nAChR) subunits CHRNA4, CHRNB2, and CHRNA2 in a cohort including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and sporadic nocturnal frontal lobe epilepsy (NFLE). Upon finding a novel mutation in CHRNA2 in a large family, we tested in vitro its functional effects. METHODS: We sequenced all the coding exons and their flanking intronic regions in 150 probands (73 NFLE, 77 ADNFLE), in most of whom diagnosis had been validated by EEG recording of seizures...
April 14, 2015: Neurology
https://www.readbyqxmd.com/read/25600783/incidence-of-sudden-unexpected-death-in-nocturnal-frontal-lobe-epilepsy-a-cohort-study
#11
Barbara Mostacci, Francesca Bisulli, Luca Vignatelli, Laura Licchetta, Lidia Di Vito, Claudia Rinaldi, Irene Trippi, Lorenzo Ferri, Giuseppe Plazzi, Federica Provini, Paolo Tinuper
OBJECTIVE: Most cases of sudden unexpected death in epilepsy (SUDEP) follow a seizure, and most deaths occur while people are in bed, presumably sleeping. Nocturnal seizures are reported to be a risk factor for SUDEP. People with nocturnal frontal lobe epilepsy (NFLE) have seizures predominantly or exclusively during sleep, often many times per night. The present study aimed to assess whether NFLE represents a high-risk condition for SUDEP. METHODS: The present study retrospectively assessed the incidence of SUDEP in a cohort reconstructed from a dedicated database of consecutive patients referred to the Epilepsy and Sleep Centres of the Institute of Neurological Sciences of Bologna from 1980 to 2012 with: (1) a diagnosis of NFLE, (2) at least 90% of seizures during sleep, and (3) at least one-year of follow-up...
February 2015: Sleep Medicine
https://www.readbyqxmd.com/read/25570820/characterization-of-the-autonomic-system-during-the-cyclic-alternating-pattern-of-sleep
#12
J S Gonzalez-Salazar, A Alba, M O Mendez, J M Luna-Rivera, L Parrino, A Grassi, M Terzano, G Milioli
Evaluation of the RR variability was carried out during the Cyclic Alternating Pattern (CAP) in sleep. CAP is a central phenomenon formed by short events called A-phases that break basal electroencephalogram (EEG) oscillations of the sleep stages. A-phases are classified in three types (A1, A2 and A3) based on the EEG desynchronization during A-phase. However, the relation of A-phases with other systems, such as cardiovascular system, is unclear and a deep analysis is required. For the study, six patients with Nocturnal Front Lobe Epilepsy (NFLE) and other six healthy controls patients underwent whole night polysomnographic recordings with CAP and hypnogram annotations...
2014: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/25406112/prevalence-of-nocturnal-frontal-lobe-epilepsy-in-the-adult-population-of-bologna-and-modena-emilia-romagna-region-italy
#13
Luca Vignatelli, Francesca Bisulli, Giada Giovannini, Laura Licchetta, Ilaria Naldi, Barbara Mostacci, Guido Rubboli, Federica Provini, Paolo Tinuper, Stefano Meletti
STUDY OBJECTIVES: To estimate the prevalence of nocturnal frontal lobe epilepsy (NFLE) in the adults of two areas of the Emilia-Romagna region (northeast Italy) and to describe the clinical features from a population-based perspective. DESIGN: Population-based retrospective cohort study including adults with NFLE. SETTING: Two areas of the Emilia-Romagna region: the city of Bologna (330,901 adult residents) and five districts of the province of Modena (424,007)...
March 2015: Sleep
https://www.readbyqxmd.com/read/25317097/choking-in-the-night-due-to-nfle-seizures-in-a-patient-with-comorbid-osa
#14
Michele Terzaghi, Ivana Sartori, Riccardo Cremascoli, Valter Rustioni, Raffaele Manni
Awakenings from sleep with gasping and feeling of choking can be due to nocturnal frontal lobe epilepsy (NFLE) as well as sleep apnea (OSA). We describe the case of an overweight man, referred to us with suspected OSA and reporting awakenings from sleep accompanied by gasping and a choking feeling, which proved to be, after investigation, NFLE seizures in a patient with comorbid OSA. We underline that gasping or choking on awakening, especially when accompanied by abnormal motor-behavioral manifestations, should be interpreted with caution...
October 15, 2014: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/25282705/a-novel-mutation-of-the-nicotinic-acetylcholine-receptor-gene-chrna4-in-a-chinese-patient-with-non-familial-nocturnal-frontal-lobe-epilepsy
#15
Meng-yang Wang, Xing-zhou Liu, Jing Wang, Li-wen Wu
So far, only two mutations in the CHRNA4 gene (in three studies) and one mutation in the CHRNB2 gene had been identified in the patients with sporadic nocturnal frontal lobe epilepsy (NFLE). The absence of mutations in the candidate genes in the majority of sporadic NFLE patients suggest that they are rare loci for the disease, but the necessity of performing genetic testing for sporadic cases should not be neglected. We designed mutation screening of exon 5 of CHRNA4, exon 5 of CHRNB2, and exon 6 of CHRNA2 in a group of 56 Chinese sporadic NFLE cases...
December 2014: Epilepsy Research
https://www.readbyqxmd.com/read/25238305/choking-in-the-night-due-to-nfle-seizures-in-a-patient-with-comorbid-osa
#16
Michele Terzaghi, Ivana Sartori, Riccardo Cremascoli, Valter Rustioni, Raffaele Manni
Awakenings from sleep with gasping and feeling of choking can be due to nocturnal frontal lobe epilepsy (NFLE) as well as sleep apnea (OSA). We describe the case of an overweight man, referred to us with suspected OSA and reporting awakenings from sleep accompanied by gasping and a choking feeling, which proved to be, after investigation, NFLE seizures in a patient with comorbid OSA. We underline that gasping or choking on awakening, especially when accompanied by abnormal motorbehavioral manifestations, should be interpreted with caution...
September 19, 2014: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/25224073/auditory-aura-in-nocturnal-frontal-lobe-epilepsy-a-red-flag-to-suspect-an-extra-frontal-epileptogenic-zone
#17
Lorenzo Ferri, Francesca Bisulli, Lino Nobili, Laura Tassi, Laura Licchetta, Barbara Mostacci, Carlotta Stipa, Greta Mainieri, Giorgia Bernabè, Federica Provini, Paolo Tinuper
OBJECTIVE: To describe the anatomo-electro-clinical findings of patients with nocturnal hypermotor seizures (NHS) preceded by auditory symptoms, to evaluate the localizing value of auditory aura. METHODS: Our database of 165 patients with nocturnal frontal lobe epilepsy (NFLE) diagnosis confirmed by videopolysomnography (VPSG) was reviewed, selecting those who reported an auditory aura as the initial ictal symptom in at least two NHS during their lifetime. RESULTS: Eleven patients were selected (seven males, four females)...
November 2014: Sleep Medicine
https://www.readbyqxmd.com/read/24479058/nocturnal-frontal-lobe-epilepsy-presenting-as-excessive-daytime-sleepiness
#18
Jocelyn Y Cheng, Douglas M Wallace, Maria R Lopez, Enrique J Carrazana
Excessive daytime sleepiness (EDS) is common in the general population. Etiologies include insufficient sleep and primary sleep disorders. Due to its high prevalence, physicians often overlook EDS as a significant problem. However, EDS may also be the presenting symptom of seizures, in particular Nocturnal Frontal Lobe Epilepsy (NFLE). Due to the clinical similarity between the nocturnal behaviors of NFLE and parasomnias, and poor patient-related history, NFLE remains a challenging diagnosis. We report the case of a patient with NFLE who presented with a primary complaint of EDS, and discuss the differential diagnosis and evaluation of patients with EDS associated with nocturnal behaviors...
January 2013: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/24447995/nocturnal-frontal-lobe-epilepsy-in-mucopolysaccharidosis
#19
Paolo Bonanni, Anna Volzone, Giovanna Randazzo, Lisa Antoniazzi, Angelica Rampazzo, Maurizio Scarpa, Lino Nobili
Nocturnal frontal lobe epilepsy (NFLE) is an epileptic syndrome that is primarily characterized by seizures with motor signs occurring almost exclusively during sleep. We describe 2 children with mucopolysaccharidosis (MPS) who were referred for significant sleep disturbance. Long term video-EEG monitoring (LT-VEEGM) demonstrated sleep-related hypermotor seizures consistent with NFLE. No case of sleep-related hypermotor seizures has ever been reported to date in MPS. However, differential diagnosis with parasomnias has been previously discussed...
October 2014: Brain & Development
https://www.readbyqxmd.com/read/24395520/nocturnal-frontal-lobe-epilepsy
#20
REVIEW
Lino Nobili, Paola Proserpio, Romina Combi, Federica Provini, Giuseppe Plazzi, Francesca Bisulli, Laura Tassi, Paolo Tinuper
Nocturnal frontal lobe epilepsy (NFLE) is a syndrome of heterogeneous etiology, characterized by the occurrence of sleep-related seizures with different complexity and duration. Genetic, lesional, and cryptogenetic NFLE forms have been described. NFLE is generally considered a benign clinical entity, although severe, drug-resistant forms do exist. A significant proportion of sleep-related complex motor seizures, hardly distinguishable from NFLE, originate outside the frontal lobe. Moreover, the distinction of NFLE from the non-rapid eye movement arousal parasomnias may be challenging...
February 2014: Current Neurology and Neuroscience Reports
keyword
keyword
65279
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"