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https://www.readbyqxmd.com/read/28098945/frequency-of-cnksr2-mutation-in-the-x-linked-epilepsy-aphasia-spectrum
#1
John A Damiano, Rosemary Burgess, Sara Kivity, Tally Lerman-Sagie, Zaid Afawi, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand
Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairments. CNKSR2 (connector enhancer of KSR2) is a synaptic protein involved in Ras signaling-mediated neuronal proliferation, migration and differentiation. Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. In this study, we sequenced 112 patients with phenotypes within the epilepsy-aphasia spectrum (EAS) to determine the frequency of CNKSR2 mutation within this complex set of disorders...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28098941/posterior-cortex-epilepsy-surgery-in-childhood-and-adolescence-predictors-of-long-term-seizure-outcome
#2
Georgia Ramantani, Angeliki Stathi, Armin Brandt, Karl Strobl, Susanne Schubert-Bast, Gert Wiegand, Rudolf Korinthenberg, Vera van Velthoven, Josef Zentner, Andreas Schulze-Bonhage, Thomas Bast
OBJECTIVE: We aimed to investigate the long-term seizure outcome of children and adolescents who were undergoing epilepsy surgery in the parietooccipital cortex and determine their predictive factors. METHODS: We retrospectively analyzed the data of 50 consecutive patients aged 11.1 (mean) ± 5.1 (standard deviation) years at surgery. All patients but one had a magnetic resonance imaging (MRI)-visible lesion. Resections were parietal in 40%, occipital in 32%, and parietooccipital in 28% cases; 24% patients additionally underwent a resection of the posterior border of the temporal lobe...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28098938/towards-prognostic-biomarkers-from-bold-fluctuations-to-differentiate-a-first-epileptic-seizure-from-new-onset-epilepsy
#3
Lalit Gupta, Rick Janssens, Mariëlle C G Vlooswijk, Rob P W Rouhl, Anton de Louw, Albert P Aldenkamp, Shrutin Ulman, René M H Besseling, Paul A M Hofman, Vivianne H van Kranen-Mastenbroek, Danny M Hilkman, Jacobus F A Jansen, Walter H Backes
OBJECTIVE: The diagnosis of epilepsy cannot be reliably made prior to a patient's second seizure in most cases. Therefore, adequate diagnostic tools are needed to differentiate subjects with a first seizure from those with a seizure preceding the onset of epilepsy. The objective was to explore spontaneous blood oxygen level-dependent (BOLD) fluctuations in subjects with a first-ever seizure and patients with new-onset epilepsy (NOE), and to find characteristic biomarkers for seizure recurrence after the first seizure...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28098937/sodium-selenate-treatment-improves-symptoms-and-seizure-susceptibility-in-a-malin-deficient-mouse-model-of-lafora-disease
#4
Gentzane Sánchez-Elexpuru, José M Serratosa, Marina P Sánchez
OBJECTIVE: To search for new therapies aimed at ameliorating the neurologic symptoms and epilepsy developing in patients with Lafora disease. METHODS: Lafora disease is caused by loss-of-function mutations in either the EPM2A or EPM2B genes. Epm2a(-/-) and Epm2b(-/-) mice display neurologic and behavioral abnormalities similar to those found in patients. Selenium is a potent antioxidant and its deficiency has been related to the development of certain diseases, including epilepsy...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28098336/preclinical-evaluation-of-intravenous-nax-810-2-a-novel-galr2-preferring-analog-for-anticonvulsant-efficacy-and-pharmacokinetics
#5
Cameron S Metcalf, Brian D Klein, Daniel R McDougle, Liuyin Zhang, Dan Kaufmann, Grzegorz Bulaj, H Steve White
OBJECTIVE: Potential clinical utility of galanin or peptidic analogs has been hindered by poor metabolic stability, lack of brain penetration, and hyperglycemia due to galanin receptor subtype 1 (GalR1) activation. NAX 810-2, a galanin receptor subtype 2 (GalR2)-preferring galanin analog, possesses 15-fold greater affinity for GalR2 over GalR1 and protects against seizures in the mouse 6 Hz, corneal kindling, and Frings audiogenic seizure models. The purpose of these studies was to further evaluate the preclinical efficacy and pharmacokinetics of NAX 810-2 in mice...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28097810/physicochemical-and-biological-evaluation-of-a-cinnamamide-derivative-r-s-2e-1-3-hydroxypiperidin-1-yl-3-phenylprop-2-en-1-one-km-608-for-nervous-system-disorders
#6
Agnieszka Gunia-Krzyżak, Ewa Żesławska, Florence Bareyre, Wojciech Nitek, Anna M Waszkielewicz, Henryk Marona
A cinnamamide scaffold has been successfully incorporated in several compounds possessing desirable pharmacological activities in central and peripheral nervous system such as anticonvulsant, antidepressant, neuroprotective, analgesic, anti-inflammatory, muscle relaxant, and sedative/hypnotic properties. R,S-(2E)-1-(3-hydroxypiperidin-1-yl)-3-phenylprop-2-en-1-one (KM-608), a cinnamamide derivative, was synthesized, its chemical structure was confirmed by means of spectroscopy and crystallography, additionally thermal analysis showed that it exists in one crystalline form...
January 18, 2017: Chemical Biology & Drug Design
https://www.readbyqxmd.com/read/28097528/pharmacology-and-toxicology-of-n-benzylphenethylamine-nbome-hallucinogens
#7
Adam L Halberstadt
Serotonergic hallucinogens induce profound changes in perception and cognition. The characteristic effects of hallucinogens are mediated by 5-HT2A receptor activation. One class of hallucinogens are 2,5-dimethoxy-substituted phenethylamines, such as the so-called 2C-X compounds 2,5-dimethoxy-4-bromophenethylamine (2C-B) and 2,5-dimethoxy-4-iodophenethylamine (2C-I). Addition of an N-benzyl group to phenethylamine hallucinogens produces a marked increase in 5-HT2A-binding affinity and hallucinogenic potency...
January 18, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#8
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28097330/electroencephalographic-periodic-discharges-and-frequency-dependent-brain-tissue-hypoxia-in-acute-brain-injury
#9
Jens Witsch, Hans-Peter Frey, J Michael Schmidt, Angela Velazquez, Cristina M Falo, Michael Reznik, David Roh, Sachin Agarwal, Soojin Park, E Sander Connolly, Jan Claassen
Importance: Periodic discharges (PDs) that do not meet seizure criteria, also termed the ictal interictal continuum, are pervasive on electroencephalographic (EEG) recordings after acute brain injury. However, their association with brain homeostasis and the need for clinical intervention remain unknown. Objective: To determine whether distinct PD patterns can be identified that, similar to electrographic seizures, cause brain tissue hypoxia, a measure of ongoing brain injury...
January 9, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28097203/staged-anticonvulsant-screening-for-chronic-epilepsy
#10
Yevgeny Berdichevsky, Yero Saponjian, Kyung-Il Park, Bonnie Roach, Wendy Pouliot, Kimberly Lu, Waldemar Swiercz, F Edward Dudek, Kevin J Staley
OBJECTIVE: Current anticonvulsant screening programs are based on seizures evoked in normal animals. One-third of epileptic patients do not respond to the anticonvulsants discovered with these models. We evaluated a tiered program based on chronic epilepsy and spontaneous seizures, with compounds advancing from high-throughput in vitro models to low-throughput in vivo models. METHODS: Epileptogenesis in organotypic hippocampal slice cultures was quantified by lactate production and lactate dehydrogenase release into culture media as rapid assays for seizure-like activity and cell death, respectively...
December 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28096104/recent-developments-in-the-surgical-management-of-paediatric-epilepsy
#11
REVIEW
Vijay M Ravindra, Matthew T Sweney, Robert J Bollo
Among the 1% of children affected by epilepsy, failure of pharmacological therapy and early age of seizure onset can lead to worse long-term cognitive outcomes, mental health disorders and impaired functional status. Surgical management often improves functional and cognitive outcomes in children with medically refractory epilepsy, especially when seizure remission is achieved. However, surgery remains underused in children with drug-resistant epilepsy, creating a large treatment gap. Several recent innovations have led to considerable improvement in surgical technique, including the recent development of minimally invasive diagnostic and therapeutic techniques such as stereotactic EEG, transcranial magnetic stimulation, MRI-guided laser ablation, as well as novel paradigms of neurostimulation...
January 17, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28095665/a-case-of-cerebral-cysticercosis-in-thailand
#12
Samasuk Thammachantha, Ratana Kunnatiranont, Pongwat Polpong
Cysticercosis and sparganosis are not uncommon parasitic infections in the developing world. Central nervous system infection by both cestodes can present with neurological signs and symptoms, such as seizure and mass effect, including brain hernia. Early detection and accurate diagnosis can prevent a fatal outcome. Histological examinations of brain tissues can confirm the diagnosis of cerebral cysticercosis, which differs from sparganosis by the presence of a cavitated body. We report here a case of cerebral cysticercosis which has the similar clinical and imaging findings as sparganosis...
December 2016: Korean Journal of Parasitology
https://www.readbyqxmd.com/read/28095390/hydrogen-sulfide-promotes-learning-and-memory-and-suppresses-proinflammatory-cytokines-in-repetitive-febrile-seizures
#13
Fei Zhuang, Xuhong Zhou, Hong Li, Xiaochun Yang, Zewu Dong, Wendi Zhou, Jian Chen
OBJECTIVE: Hydrogen sulfide (H2S), as a novel gasotransmitter, plays important roles in a number of physiological and pathological processes. Its effectiveness has been demonstrated in different types of brain disorders but not in repetitive febrile seizure (febrile status epilepticus; FSE) models. This study aims to test whether a donor of H2S sodium sulfhydrate (NaHS) is also effective for FSE in rats. METHODS: FSE was induced in rat pups on postnatal day 10 in water at 45...
January 18, 2017: Neuroimmunomodulation
https://www.readbyqxmd.com/read/28094959/noninvasive-targeted-transcranial-neuromodulation-via-focused-ultrasound-gated-drug-release-from-nanoemulsions
#14
Raag D Airan, Randall A Meyer, Nicholas P K Ellens, Kelly Rhodes, Keyvan Farahani, Martin G Pomper, Shilpa D Kadam, Jordan J Green
Targeted, noninvasive neuromodulation of the brain of an otherwise awake subject could revolutionize both basic and clinical neuroscience. Towards this goal, we have developed nanoparticles that allow noninvasive uncaging of a neuromodulatory drug - in this case the small molecule anesthetic propofol - upon the application of focused ultrasound. These nanoparticles are composed of biodegradable and biocompatible constituents and are activated using sonication parameters that are readily achievable by current clinical transcranial focused ultrasound systems...
January 17, 2017: Nano Letters
https://www.readbyqxmd.com/read/28094168/clinical-epidemiology-and-treatment-of-febrile-and-afebrile-convulsions-with-mild-gastroenteritis-a-multicenter-study
#15
Yousuke Higuchi, Toshihide Kubo, Toshiharu Mitsuhashi, Naoko Nakamura, Ichiro Yokota, Osamu Komiyama, Isamu Kamimaki, Shigenori Yamamoto, Yasushi Uchida, Kyoko Watanabe, Hironori Yamashita, Shigeki Tanaka, Kosei Iguchi, Ryouji Ichimi, Shinichiro Miyagawa, Toshimitsu Takayanagi, Hiroshi Koga, Akinori Shukuya, Akiko Saito, Keizo Horibe
BACKGROUND: We investigated features and responses to treatment in patients with febrile and afebrile convulsions with mild gastroenteritis and characterized convulsions with rotavirus and norovirus gastroenteritis. METHODS: We conducted a prospective, observational study to evaluate patients with febrile and afebrile convulsions with mild gastroenteritis who were hospitalized between November 2011 and March 2014 at 13 facilities in the National Hospital Organization...
August 3, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28094167/seizures-and-antiseizure-medications-are-important-to-parents-of-newborns-with-seizures
#16
Elizabeth Hill, Hannah Cranley Glass, Kelli Kelley, Marty Barnes, Stephanie Rau, Linda S Franck, Renée A Shellhaas
BACKGROUND: Neonatal seizures and antiseizure medications both have potentially serious consequences on the developing brain. As such, optimal treatment of neonatal seizures remains unclear. Moreover, little is known about parental experiences, concerns, or unanswered questions. We conducted an online survey to assess parental perspectives regarding neonatal seizures and their management, along with their suggestions for specific high priority research topics. METHODS: Parents whose children had neonatal seizures were recruited through social media support groups to complete an online survey...
October 8, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28094088/usefulness-of-multiparametric-computerized-tomography-findings-in-the-differential-diagnosis-of-stroke-mimics-of-epileptic-origin-a-preliminary-study
#17
R López Ruiz, S Quintas, P Largo, M de Toledo, M T Carreras, A Gago-Veiga, R Manzanares, J Vivancos
OBJECTIVE: Thirty percent of the patients for whom code stroke is activated have stroke mimics, the most common being epilepsy. Our purpose was to evaluate the usefulness of multiparametric CT for differentiating between seizure-related symptoms and vascular events. MATERIAL AND METHODS: We conducted a retrospective observational study; data were gathered prospectively during one year. We studied multiparametric CT images of patients admitted following code stroke activation and finally diagnosed with epilepsy...
January 13, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28094084/incontinence-and-psychological-symptoms-in-individuals-with-mowat-wilson-syndrome
#18
Justine Niemczyk, Stewart Einfeld, David Mowat, Monika Equit, Catharina Wagner, Leopold Curfs, Alexander von Gontard
BACKGROUND: Mowat-Wilson Syndrome (MWS) is caused by deletion/mutation of the ZEB2 gene on chromosome 2q22. MWS is characterized by a distinctive facial appearance, severe intellectual disability and other anomalies, e.g. seizures and/or Hirschsprung disease (HSCR). Most individuals have a sociable demeanor, but one third show psychological problems. AIMS: The aim was to investigate incontinence and psychological problems in MWS. METHODS AND PROCEDURES: 26 children (4-12 years), 13 teens (13-17 years) and 8 adults (>18years) were recruited through a MWS support group...
January 13, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28094079/a-stroke-mimic-methotrexate-induced-neurotoxicity-in-the-emergency-department
#19
Patrick Rogers, Wilbur J Pan, Richard A Drachtman, Christopher Haines
BACKGROUND: Acute lymphoblastic leukemia (ALL) is the most common form of childhood leukemia. The treatment of ALL involves multimodality therapy, and methotrexate (MTX) remains a mainstay of treatment. A complication of MTX therapy includes acute, subacute, and chronic neurotoxocity. Signs and symptoms may range from headaches, dizziness, and mood disorders to seizures and stroke-like symptoms. CASE REPORT: An 18-year-old woman with a history of ALL presented to the emergency department with acute onset of right-sided facial paralysis, right upper extremity flaccid paralysis, and right lower extremity weakness after receiving MTX therapy 3 days earlier...
January 13, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28093374/predictors-of-pharmacological-intervention-in-adolescents-with-protracted-symptoms-after-sports-related-concussion
#20
Shanti M Pinto, Maria F Twichell, Luke C Henry
BACKGROUND: Though recovery after concussion is spontaneous and typically occurs within two to three weeks, a subset of adolescents develop persistent symptoms after a sports-related concussion. Medications are frequently prescribed as part of a comprehensive treatment approach to alleviate these symptoms; however, there are no guidelines for prescription of pharmacologic therapy after concussion. OBJECTIVE: To investigate common factors that are associated with the use of medications (anti-epileptic, anti-depressant, neurostimulant, or sleeping medication) during recovery from a sports-related concussion...
January 13, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
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