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https://www.readbyqxmd.com/read/27830187/germline-and-somatic-mutations-in-the-mtor-gene-in-focal-cortical-dysplasia-and-epilepsy
#1
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
#2
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
#3
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
https://www.readbyqxmd.com/read/27588695/an-examination-of-feline-extraocular-motoneuron-pools-as-a-function-of-muscle-fiber-innervation-type-and-muscle-layer
#4
Martin O Bohlen, Susan Warren, Michael J Mustari, Paul J May
In this study, two points related to the pattern of innervation of the extraocular muscles were explored. 1. Species differences exist in the location of the motoneurons supplying multiply innervated fibers (MIFs) and singly innervated fibers (SIFs) in eye muscles. MIF motoneurons are located outside the extraocular nuclei in primates, but are intermixed with SIF motoneurons within rat extraocular nuclei. To test whether this difference is related to visual capacity and frontal placement of eyes, we injected retrograde tracers into the medial rectus muscle of the cat, a highly visual, non-primate with frontally placed eyes...
September 2, 2016: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/27568802/reduced-slow-wave-sleep-is-associated-with-high-cerebrospinal-fluid-a%C3%AE-42-levels-in-cognitively-normal-elderly
#5
Andrew W Varga, Margaret E Wohlleber, Sandra Giménez, Sergio Romero, Joan F Alonso, Emma L Ducca, Korey Kam, Clifton Lewis, Emily B Tanzi, Samuel Tweardy, Akifumi Kishi, Ankit Parekh, Esther Fischer, Tyler Gumb, Daniel Alcolea, Juan Fortea, Alberto Lleó, Kaj Blennow, Henrik Zetterberg, Lisa Mosconi, Lidia Glodzik, Elizabeth Pirraglia, Omar E Burschtin, Mony J de Leon, David M Rapoport, Shou-En Lu, Indu Ayappa, Ricardo S Osorio
STUDY OBJECTIVES: Emerging evidence suggests a role for sleep in contributing to the progression of Alzheimer disease (AD). Slow wave sleep (SWS) is the stage during which synaptic activity is minimal and clearance of neuronal metabolites is high, making it an ideal state to regulate levels of amyloid beta (Aβ). We thus aimed to examine relationships between concentrations of Aβ42 in the cerebrospinal fluid (CSF) and measures of SWS in cognitively normal elderly subjects. METHODS: Thirty-six subjects underwent a clinical and cognitive assessment, a structural MRI, a morning to early afternoon lumbar puncture, and nocturnal polysomnography...
November 1, 2016: Sleep
https://www.readbyqxmd.com/read/27437334/obsessive-compulsive-symptoms-in-an-adolescent-appearing-after-cerebellar-vermian-mass-resection
#6
Harshal Sathe, Sagar Karia, Avinash De Sousa, Nilesh Shah
Obsessive compulsive symptoms have been reported in frontal lobe tumours and basal ganglia lesions. We report herewith a case of an adolescent who had a vermian cystic mass for which he underwent excision surgery. Three months postsurgery family members noticed that he started with repeated hand washing and abnormal walking pattern. Also, he developed bedwetting in sleep at night. He was given clinical diagnosis of Obsessive-Compulsive Disorder (OCD) and Nocturnal enuresis following a cerebellar mass removal which improved with fluoxetine and impiramine respectively...
May 2016: Journal of Clinical and Diagnostic Research: JCDR
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
#7
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/27247261/boosting-slow-oscillatory-activity-using-tdcs-during-early-nocturnal-slow-wave-sleep-does-not-improve-memory-consolidation-in-healthy-older-adults
#8
Sven Paßmann, Nadine Külzow, Julia Ladenbauer, Daria Antonenko, Ulrike Grittner, Sascha Tamm, Agnes Flöel
BACKGROUND: Previous studies have demonstrated an enhancement of hippocampal-dependent declarative memory consolidation, associated slow wave sleep (SWS) and slow wave activity (SWA) after weak slow oscillatory stimulation (so-tDCS) during early non-rapid eye movement sleep (NREM) in young adults. Recent studies in older individuals could not confirm these findings. However, it remained unclear if this difference was due to variations in study protocol or to the age group under study...
September 2016: Brain Stimulation
https://www.readbyqxmd.com/read/27164717/definition-and-diagnostic-criteria-of-sleep-related-hypermotor-epilepsy
#9
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
#10
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/27066565/two-definite-cases-of-sudden-unexpected-death-in-epilepsy-in-a-family-with-a-depdc5-mutation
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/26786403/nocturnal-frontal-lobe-epilepsy-caused-by-a-mutation-in-the-gator1-complex-gene-nprl3
#14
Georg-Christoph Korenke, Marlene Eggert, Holger Thiele, Peter Nürnberg, Thomas Sander, Ortrud K Steinlein
Mutations in NPRL3, one of three genes that encode proteins of the mTORC1-regulating GATOR1 complex, have recently been reported to cause cortical dysplasia with focal epilepsy. We have now analyzed a multiplex epilepsy family by whole exome sequencing and identified a frameshift mutation (NM_001077350.2; c.1522delG; p.E508Rfs*46) within exon 13 of NPRL3. This truncating mutation causes an epilepsy phenotype characterized by early childhood onset of mainly nocturnal frontal lobe epilepsy. The penetrance in our family was low (three affected out of six mutation carriers), compared to families with either ion channel- or DEPDC5-associated familial nocturnal frontal lobe epilepsy...
March 2016: Epilepsia
https://www.readbyqxmd.com/read/26740507/kcnt1-mutations-in-seizure-disorders-the-phenotypic-spectrum-and-functional-effects
#15
REVIEW
Chiao Xin Lim, Michael G Ricos, Leanne M Dibbens, Sarah E Heron
Mutations in the sodium-gated potassium channel subunit gene KCNT1 have recently emerged as a cause of several different epileptic disorders. This review describes the mutational and phenotypic spectrum associated with the gene and discusses the comorbidities found in patients, which include intellectual disability and psychiatric features. The gene may also be linked with cardiac disorders. KCNT1 missense mutations have been found in 39% of patients with the epileptic encephalopathy malignant migrating focal seizures of infancy (MMFSI), making it the most significant MMFSI disease-causing gene identified to date...
April 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/26630811/waveform-window-30-a-case-of-nocturnal-episodes
#16
Nikesh Ardeshna
No abstract text is available yet for this article.
September 2015: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/26561946/distinctive-effects-of-nicotinic-receptor-intracellular-loop-mutations-associated-with-nocturnal-frontal-lobe-epilepsy
#17
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/26483923/sporadic-nocturnal-frontal-lobe-epilepsy-a-consecutive-series-of-8-cases
#18
Shih-Bin Yeh, Carlos H Schenck
OBJECTIVE: To present findings on a series of cases of sporadic nocturnal frontal lobe epilepsy (NFLE), a form of NFLE that is infrequently reported, in contrast to familial (autosomal dominant) NFLE. Both forms of NFLE need to be distinguished from parasomnias, nocturnal temporal lobe epilepsy, and other nocturnal disorders. METHODS: Eight consecutive cases of sporadic NFLE were evaluated at a sleep clinic in Taiwan. All patients had clinical evaluations, daytime waking and sleeping EEGs, brain MRIs, and overnight video-polysomnography (vPSG) with seizure montage...
September 2014: Sleep Science
https://www.readbyqxmd.com/read/26339676/prima1-mutation-a-new-cause-of-nocturnal-frontal-lobe-epilepsy
#19
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/26319923/episodes-of-nocturnal-awakening-more-than-meets-the-eye
#20
Devraj Chavda, Rajkumar Agarwal, Jun Park
No abstract text is available yet for this article.
September 2015: Journal of Pediatrics
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