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https://www.readbyqxmd.com/read/29150900/genetic-overlap-between-epilepsy-and-schizophrenia-evidence-from-cross-phenotype-analysis-in-hong-kong-chinese-population
#1
Hongsheng Gui, Miaoxin Li, Pak C Sham, Larry Baum, Patrick Kwan, Stacey S Cherny
Epilepsy and schizophrenia are common and typical neurological or mental illness respectively, and sometimes they comorbid in the same patients, however the underlying genetic relationship between the two brain diseases is still not fully understood. To investigate the possible genetic contribution to their comorbidity, we performed polygenic risk score (PRS) analyses and genetic correlation estimation so as to identify the overall genetic overlap between the two diseases. The global schizophrenia PRS is strongly associated with schizophrenia phenotype in Hong Kong population (odds ratio = 1...
November 17, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#2
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29150855/thalamic-volume-reduction-in-drug-naive-patients-with-new-onset-genetic-generalized-epilepsy
#3
Suejen Perani, Tim M Tierney, Maria Centeno, Elhum A Shamshiri, Siti N Yaakub, Jonathan O'Muircheartaigh, David W Carmichael, Mark P Richardson
OBJECTIVE: Patients with genetic generalized epilepsy (GGE) have subtle morphologic abnormalities of the brain revealed with magnetic resonance imaging (MRI), particularly in the thalamus. However, it is unclear whether morphologic abnormalities of the brain in GGE are a consequence of repeated seizures over the duration of the disease, or are a consequence of treatment with antiepileptic drugs (AEDs), or are independent of these factors. Therefore, we measured brain morphometry in a cohort of AED-naive patients with GGE at disease onset...
November 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/29150638/the-kohlsch%C3%A3-tter-t%C3%A3-nz-syndrome-associated-gene-rogdi-encodes-a-novel-presynaptic-protein
#4
Donatus Riemann, Rebecca Wallrafen, Thomas Dresbach
Mutations in the human homolog of the Drosophila gene Rogdi cause Kohlschütter-Tönz syndrome. This disorder is characterised by amelogenesis imperfecta, as well as severe neurological symptoms including epilepsy and psychomotor delay. However, little is known about the protein encoded by Rogdi, and hence the pathogenic mechanisms underlying Kohlschütter-Tönz syndrome have remained elusive. Using immunofluorescence of rat cultured hippocampal neurons and brain sections we find that Rogdi is enriched at synaptic sites...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29149735/carbamazepine-lamotrigine-levetiracetam-and-valproic-acid-in-dried-blood-spots-with-liquid-chromatography-tandem-mass-spectrometry-method-development-and-validation
#5
Camilla Linder, Anna Hansson, Sara Sadek, Lars L Gustafsson, Anton Pohanka
Monitoring of antiepileptic drugs in children with epilepsy require multiple visits at a clinic for blood collection. Dried blood spot sampling is an alternative way of collection, performed at home by self-collection and can save time and costs for patients and family members. The aim was to develop and validate an LC-MS/MS dried blood spot method for carbamazepine, lamotrigine, levetiracetam and valproic acid with the requirements of using standard equipment and material in a routine laboratory setting. Whatman-903 filter paper was utilized, and discs were punched into a 96 well plate with an automated puncher and barcode reading...
November 4, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/29149669/effective-clinical-classification-of-chronic-epilepsy-into-focal-and-generalized-a-cross-sectional-study
#6
Shambhu Kumar, Mamta Bhushan Singh, Garima Shukla, Sreenivas Vishnubhatla, M V Padma Srivastava, Vinay Goyal, Kameshwar Prasad, Victor Patterson
PURPOSE: Investigations such as EEG and brain imaging are often difficult to obtain in primary care settings of resource-limited regions impacting millions of epilepsy patients. We wanted to test the hypothesis that classification of chronic epilepsy into focal and generalized based on clinical history and examination alone would be comparable to making such a classification with additional inputs from EEG and brain imaging. METHODS: Two investigators independently classified consecutive chronic epilepsy patients into focal, generalized and unclassified epilepsy...
November 9, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29149668/parental-knowledge-and-attitudes-towards-epilepsy-a-study-from-jordan
#7
Amira Masri, Samah Aburahma, Aisha Khasawneh, Abdelkarim Al Qudah, Omar Nafi, Miral Al Momani, Faisal Khatib
PURPOSE: To explore the knowledge, attitudes and behaviors of parents whose children were diagnosed with epilepsy. METHODS: Cross-sectional questionnaire based study of parents who accompanied their children with epilepsy to the child neurology clinics at three university hospitals in Jordan. RESULTS: Most parents (427, 90.3%) knew that epilepsy is not related to a psychiatric disease. Approximately half of the parents (245, 51.8%) used the internet as their source of knowledge, and most used Arabic websites...
November 8, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29147777/how-i-do-it-selective-amygdalohippocampectomy-via-a-navigated-temporobasal-approach-when-veins-forbid-elevation-of-the-temporal-lobe
#8
Daniel Delev, Johannes Schramm, Hans Clusmann
BACKGROUND: Selective amygdalohippocampectomy is an effective treatment option for mesial temporal lobe epilepsy associated with hippocampal sclerosis. METHODS: To describe and emphasize potential pitfalls during selective amygdalohippocampectomy via a modified navigated temporobasal approach, in cases, where temporal basal veins hinder the required elevation of the temporal lobe. CONCLUSIONS: Selective amygdalohippocampectomy via navigated temporobasal approach is a safe procedure that can reduce the rate of visual field deficits by avoiding damage of optic radiation...
November 16, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29146728/source-estimation-of-epileptic-activity-using-eloreta-kurtosis-analysis
#9
Shunichiro Ikeda, Ryouhei Ishii, Leonides Canuet, Roberto D Pascual-Marqui
Exact low-resolution brain electromagnetic tomography (eLORETA) is a technique for three-dimensional representation of the distribution of sources of electrical activity in the brain. Kurtosis analysis allows for identification of spiky activity in the brain. To evaluate the reliability of eLORETA kurtosis analysis, the results of the analysis were compared with those of equivalent current dipole (ECD) and synthetic aperture magnetometry (SAM) kurtosis analysis of magnetoencephalography (MEG) data in a patient with epilepsy with elementary visual seizures in a 6-year follow-up...
November 16, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29146047/maternal-immune-activation-delays-excitatory-to-inhibitory-gamma-aminobutyric-acid-switch-in-offspring
#10
Irene Corradini, Elisa Focchi, Marco Rasile, Raffaella Morini, Genni Desiato, Romana Tomasoni, Michela Lizier, Elsa Ghirardini, Riccardo Fesce, Diego Morone, Isabella Barajon, Flavia Antonucci, Davide Pozzi, Michela Matteoli
BACKGROUND: The association between maternal infection and neurodevelopmental defects in progeny is well established, although the biological mechanisms and the pathogenic trajectories involved have not been defined. METHODS: Pregnant dams were injected intraperitoneally at gestational day 9 with polyinosinic:polycytidylic acid. Neuronal development was assessed by means of electrophysiological, optical, and biochemical analyses. RESULTS: Prenatal exposure to polyinosinic:polycytidylic acid causes an imbalanced expression of the Na(+)-K(+)-2Cl(-) cotransporter 1 and the K(+)-Cl(-) cotransporter 2 (KCC2)...
November 14, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29145442/downregulation-of-kcnmb4-expression-and-changes-in-bk-channel-subtype-in-hippocampal-granule-neurons-following-seizure-activity
#11
Luke E Whitmire, Ling Ling, Vladslav Bugay, Chase M Carver, Santosh Timilsina, Hui-Hsiu Chuang, David B Jaffe, Mark S Shapiro, Jose E Cavazos, Robert Brenner
A major challenge is to understand maladaptive changes in ion channels that sets neurons on a course towards epilepsy development. Voltage- and calcium-activated K+ (BK) channels contribute to early spike timing in neurons, and studies indicate that the BK channel plays a pathological role in increasing excitability early after a seizure. Here, we have investigated changes in BK channels and their accessory β4 subunit (KCNMB4) in dentate gyrus (DG) granule neurons of the hippocampus, key neurons that regulate excitability of the hippocampus circuit...
2017: PloS One
https://www.readbyqxmd.com/read/29145183/catastrophe-reaction-and-emotionalism
#12
Antonio Carota, Julien Bogousslavsky
The catastrophic reaction (CR; a disruptive and uncontrolled behavior triggered by anger, irritability, and hostility) and emotionalism (a condition of uncontrolled crying or laughing) are disorders of the emotional regulation and expression, the prevalence of which is underestimated in neurology. Their occurrence is an additional factor of poor outcome for neurologic patients. Although they have been recognized and completely described in their clinical manifestations more than a century ago, many issues remain unsolved regarding their pathogenesis and the respective role of the brain damage and psychological factors...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29145182/pathological-yawning-laughing-and-crying
#13
Olivier Walusinski
Yawning, laughing, and crying are normal physiological behaviors of humans in good health. As with all physiological behaviors, their deregulation can reveal disorders. Pathological yawning occurs in salvos of 10-20 successive yawns, and the number of yawns per day can exceed one hundred. After listing the functional etiologies, we will give the clinical keys for differentiating the most serious causes: iatrogenic, tumors, strokes, amyotrophic lateral sclerosis, and intracranial hypertension. Sudden, uncontrollable episodes of emotional display involving pathological laughing and crying (PLC) may be encountered in various neurological diseases: amyotrophic lateral sclerosis, multiple system atrophy (cerebellar), cerebrovascular disease, traumatic brain injuries, mass lesions in the cerebellopontine junction, and epilepsy...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29145168/frontal-infraslow-activity-marks-the-motor-spasms-of-anti-lgi1-encephalitis
#14
Richard Wennberg, Claude Steriade, Robert Chen, Danielle Andrade
OBJECTIVE: The clinical and electrographic features of seizures in anti-LGI1 encephalitis are distinct from those seen in other autoimmune encephalitides or non-encephalitic epilepsies. One electroclinical phenomenon specific to the condition consists of lateralized motor spasms, known as faciobrachial dystonic seizures (FBDS). An electrodecremental pattern overriding a "DC shift" has been described as the EEG correlate of these spasms. We sought to further characterize this pre-spasm infraslow activity (ISA)...
October 28, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29144993/evaluate-the-effects-of-antiepileptic-drugs-on-reproductive-endocrine-system-in-newly-diagnosed-female-epileptic-patients-receiving-either-valproate-or-lamotrigine-monotherapy-a-prospective-study
#15
Harpreet Singh Sidhu, R Srinivasa, Akshay Sadhotra
OBJECTIVE: To investigate the development of reproductive endocrine changes in Indian women with epilepsy initiating on either Valproate (VPA) or Lamotrigine (LTG) monotherapy. METHODS: Reproductive hormonal profiles, hirsutism, ovarian morphology by ultrasonography and menstrual cycle data in newly diagnosed women with epilepsy taking VPA (n=34) or LTG (n=32) monotherapy were compared. None of the women were receiving hormonal contraception. Patients gave details of seizure type and frequency, medical and drug history...
October 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29144716/mechanism-of-action-of-non-invasive-cervical-vagus-nerve-stimulation-for-the-treatment-of-primary-headaches
#16
Bruce Simon, Justyna Blake
Stimulation of the cervical vagus nerve with implanted vagus nerve stimulation (iVNS) has been used clinically for more than 20 years to treat patients with epilepsy. More recently, a non-invasive cervical vagus nerve stimulation (nVNS), gammaCore, was developed, which has been purported to also stimulate the vagus nerve without the cost and morbidity associated with an iVNS system. gammaCore has been used to acutely treat various types of primary headaches, including migraine and cluster headaches (CH), and for the prevention of episodic, chronic, and menstrual migraines and CH...
November 2017: American Journal of Managed Care
https://www.readbyqxmd.com/read/29143960/predicting-frequent-emergency-department-use-among-children-with-epilepsy-a-retrospective-cohort-study-using-electronic-health-data-from-2-centers
#17
Zachary M Grinspan, Anup D Patel, Baria Hafeez, Erika L Abramson, Lisa M Kern
OBJECTIVE: Among children with epilepsy, to develop and evaluate a model to predict emergency department (ED) use, an indicator of poor disease control and/or poor access to care. METHODS: We used electronic health record data from 2013 to predict ED use in 2014 at 2 centers, benchmarking predictive performance against machine learning algorithms. We evaluated algorithms by calculating the expected yearly ED visits among the 5% highest risk individuals. We estimated the breakeven cost per patient per year for an intervention that reduced ED visits by 10%...
November 16, 2017: Epilepsia
https://www.readbyqxmd.com/read/29143800/hungry-neurons-metabolic-insights-on-seizure-dynamics
#18
REVIEW
Paolo Bazzigaluppi, Azin Ebrahim Amini, Iliya Weisspapir, Bojana Stefanovic, Peter L Carlen
Epilepsy afflicts up to 1.6% of the population and the mechanisms underlying the appearance of seizures are still not understood. In past years, many efforts have been spent trying to understand the mechanisms underlying the excessive and synchronous firing of neurons. Traditionally, attention was pointed towards synaptic (dys)function and extracellular ionic species (dys)regulation. Recently, novel clinical and preclinical studies explored the role of brain metabolism (i.e., glucose utilization) of seizures pathophysiology revealing (in most cases) reduced metabolism in the inter-ictal period and increased metabolism in the seconds preceding and during the appearance of seizures...
October 28, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29142081/genetic-and-molecular-regulation-of-extrasynaptic-gaba-a-receptors-in-the-brain-therapeutic-insights-for-epilepsy
#19
Shu-Hui Chuang, Doodipala Samba Reddy
GABA-A receptors play a pivotal role in many brain diseases. Epilepsy is caused by acquired conditions and genetic defects in GABA receptor channels regulating neuronal excitability in the brain. The latter is referred to as GABA channelopathies. In the last two decades, major advances have been made in the genetics of epilepsy. The presence of specific GABAergic genetic abnormalities leading to some of the classical epileptic syndromes has been identified. Advances in molecular cloning and recombinant systems have helped characterize mutations in GABA-A receptor subunit genes in clinical neurology...
November 15, 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/29141638/diffusion-weighted-imaging-of-the-brains-of-dogs-with-idiopathic-epilepsy
#20
Antje Hartmann, Steffen Sager, Klaus Failing, Marion Sparenberg, Martin J Schmidt
BACKGROUND: Idiopathic epilepsy is one of the most common neurological disorders in dogs. Unfortunately, up to 30% of dogs with idiopathic epilepsy show no improvement under antiepileptic drug treatment. Diffusion-weighted imaging is used in human medicine to identify epileptogenic foci in the brain to allow for more invasive treatments such as deep brain stimulation or surgical removal. The aim of this study was to ass the feasibility of interictal diffusion-weighted MRI in dogs and to evaluate the distribution of diffusion in the brains of dogs with idiopathic epilepsy (IE) and to compare these values to previously published values from healthy beagle dogs...
November 15, 2017: BMC Veterinary Research
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