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https://www.readbyqxmd.com/read/28230278/deletion-of-psychiatric-risk-gene-cacna1c-impairs-hippocampal-neurogenesis-in-cell-autonomous-fashion
#1
Bianca Völkening, Kai Schönig, Golo Kronenberg, Dusan Bartsch, Tillmann Weber
Ca(2+) is a universal signal transducer which fulfills essential functions in cell development and differentiation. CACNA1C, the gene encoding the alpha-1C subunit (i.e., Cav 1.2) of the voltage-dependent l-type calcium channel (LTCC), has been implicated as a risk gene in a variety of neuropsychiatric disorders. To parse the role of Cav 1.2 channels located on astrocyte-like stem cells and their descendants in the development of new granule neurons, we created Tg(GLAST-CreERT2) /Cacna1c(fl/fl) /RCE:loxP mice, a transgenic tool that allows cell-type-specific inducible deletion of Cacna1c...
February 23, 2017: Glia
https://www.readbyqxmd.com/read/28229394/epileptic-encephalopathies-clinical-syndromes-and-pathophysiological-concepts
#2
REVIEW
Markus von Deimling, Ingo Helbig, Eric D Marsh
Epileptic encephalopathies account for a large proportion of the intractable early-onset epilepsies and are characterized by frequent seizures and poor developmental outcome. The epileptic encephalopathies can be loosely divided into two related groups of named syndromes. The first comprises epilepsies where continuous EEG changes directly result in cognitive and developmental dysfunction. The second includes patients where cognitive impairment is present at seizure onset and is due to the underlying etiology but the epileptic activity may then worsen the cognitive abilities over time...
February 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28229379/a-novel-frameshift-mutation-in-the-sterol-27-hydroxylase-gene-in-an-egyptian-family-with-cerebrotendinous-xanthomatosis-without-cataract
#3
Mohamed S Abdel-Hamid, Mahmoud Y Issa, Ghada A Otaify, Maha S Zaki
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Parents were first cousins with family history of two deceased sibs with mild impaired cognitive functions and epilepsy without appearance of tendon xanthomas...
February 22, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28228737/schizophrenia-associated-with-epileptiform-discharges-without-seizures-successfully-treated-with-levetiracetam
#4
Dominique Endres, Evgeniy Perlov, Bernd Feige, Dirk-Matthias Altenmüller, Nils Venhoff, Ludger Tebartz van Elst
BACKGROUND: Schizophrenia-like disorders can be divided into endogenic or primary, idiopathic, polygenetic forms, and different secondary, organic subgroups [e.g., (para)epileptic, immunological, degenerative]. Epileptic and paraepileptic explanatory approaches have a long tradition due to the high rate of electroencephalography (EEG) alterations in patients with schizophrenia. CASE PRESENTATION: We present the case of a 23-year-old female patient suffering, since the age of 14 years, from a fluctuating paranoid-hallucinatory syndrome with formal thought disorder, fear, delusions of persecution, auditory, visual, and tactile hallucinations, as well as negative and cognitive symptoms...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28228434/sagittal-sinus-thrombosis-in-jak2-v617f-mutation-without-overt-myeloproliferative-disorder
#5
Prashant Ramesh Bhand, Supriya Ramesh Karde, Nagabathula Ramesh
We describe a case of a man aged 41 years who presented with a history of generalised headaches for 1 week and an acute episode of tonic-clonic seizures. He had no history of medical illness, was non-smoker, with an extensive family history of haematological disorders. Initial CT brain with contrast did not show any abnormalities in brain parenchyma. X-ray and CT right shoulder showed shoulder dislocation secondary to trauma associated with seizure prior to hospital admission. Subsequently, MRA and MRV brain was arranged, which revealed extensive expansible occlusive filling defect dominating the middle of superior sagittal sinus with left frontal cortical and subcortical acute oedema...
February 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28226825/effect-of-temperature-on-sleep-regulation-in-an-animal-epilepsy-model
#6
Asmaa Ajwad, Farid Yaghouby, Dillon Huffman, Bruce O'Hara, Sridhar Sunderam, Asmaa Ajwad, Farid Yaghouby, Dillon Huffman, Bruce O'Hara, Sridhar Sunderam, Dillon Huffman, Farid Yaghouby, Asmaa Ajwad, Bruce O'Hara, Sridhar Sunderam
Besides recurring seizures, disordered sleep is common in individuals with epilepsy and may present as reduced sleep depth, altered proportions of different stages of sleep, intermittent arousal, and other phenomena. Sleep loss can in turn precipitate seizures, thus sustaining a vicious cycle. It is well known that changes in ambient temperature elicit thermoregulatory responses that alter the dynamics of sleep. As a first step toward therapeutic sleep modulation for epilepsy, we assessed the effect of elevated ambient temperature on sleep dynamics and seizure yield in the chronic pilocarpine mouse model of temporal lobe epilepsy...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226669/seizure-detection-using-dynamic-warping-for-patients-with-intellectual-disability
#7
Lei Wang, Johan B A M Arends, Xi Long, Yan Wu, Pierre J M Cluitmans, Lei Wang, Johan B A M Arends, Xi Long, Yan Wu, Pierre J M Cluitmans, Yan Wu, Johan B A M Arends, Lei Wang, Pierre J M Cluitmans, Xi Long
Electroencephalography (EEG) is paramount for both retrospective analysis and real-time monitoring of epileptic seizures. Studies have shown that EEG-based seizure detection is very difficult for a specific epileptic population with intellectual disability due to the cerebral development disorders. In this work, a seizure detection method based on dynamic warping (DW) is proposed for patients with intellectual disability. It uses an EEG template of an individual subject's dominant seizure type, to extract the morphological features from EEG signals...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28225048/thiamine-deficiency-oxidative-metabolic-pathways-and-ethanol-induced-neurotoxicity-how-poor-nutrition-contributes-to-the-alcoholic-syndrome-as-marchiafava-bignami-disease
#8
REVIEW
L M P Fernandes, F R Bezerra, M C Monteiro, M L Silva, F R de Oliveira, R R Lima, E A Fontes-Júnior, C S F Maia
Ethanol is an important risk factor for the occurrence of several brain disorders that depend on the amount, period and frequency of its consumption. Chronic use of ethanol often leads to the development of neurodegenerative syndromes, which cause morphological and functional impairments such as foetal alcohol syndrome in newborns exposed to ethanol during pregnancy, Wernicke-Korsakoff Syndrome and, more rarely, Marchiafava-Bignami disease (MBD). MBD is characterized by primary degeneration of the corpus callosum, without inflammation and is associated with oxidative stress and hypovitaminosis, as well as altered mental status, to mention dementia, seizures, depression and so on...
February 22, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28223908/elevated-urinary-glyphosate-and-clostridia-metabolites-with-altered-dopamine-metabolism-in-triplets-with-autistic-spectrum-disorder-or-suspected-seizure-disorder-a-case-study
#9
William Shaw
CONTEXT: Autism is a neurodevelopmental disorder for which a number of genetic, environmental, and nutritional causes have been proposed. Glyphosate is used widely as a crop desiccant and as an herbicide in fields of genetically modified foods that are glyphosate resistant. Several researchers have proposed that it may be a cause of autism, based on epidemiological data that correlates increased usage of glyphosate with an increased autism rate. OBJECTIVE: The current study was intended to determine if excessive glyphosate was present in the triplets and their parents and to evaluate biochemical findings for the family to determine the potential effects of its presence...
February 2017: Integrative Medicine
https://www.readbyqxmd.com/read/28222339/everyday-memory-impairment-in-patients-with-temporal-lobe-epilepsy-caused-by-hippocampal-sclerosis
#10
Patrícia Rzezak, Ellen Marise Lima, Ana Carolina Gargaro, Erica Coimbra, Silvia de Vincentiis, Tonicarlo Rodrigues Velasco, João Pereira Leite, Geraldo F Busatto, Kette D Valente
OBJECTIVE: Patients with temporal lobe epilepsy caused by hippocampal sclerosis (TLE-HS) have episodic memory impairment. Memory has rarely been evaluated using an ecologic measure, even though performance on these tests is more related to patients' memory complaints. We aimed to measure everyday memory of patients with TLE-HS to age- and gender-matched controls. METHODS: We evaluated 31 patients with TLE-HS and 34 healthy controls, without epilepsy and psychiatric disorders, using the Rivermead Behavioral Memory Test (RBMT), Visual Reproduction (WMS-III) and Logical Memory (WMS-III)...
February 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28220408/guanidinoacetate-methyltransferase-activity-in-lymphocytes-for-a-fast-diagnosis
#11
Lisette M Berends, Eduard A Struys, Birthe Roos, Ulbe Holwerda, Erwin E W Jansen, Gajja S Salomons, Mirjam M C Wamelink
INTRODUCTION: Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of metabolism (IEM), clinically characterized by intellectual disability, developmental delay, seizures, and movement disorders. Biochemical diagnosis of GAMT deficiency is based on the measurement of creatine and guanidinoacetate in urine, plasma, or CSF and is confirmed genetically by DNA analysis or by enzyme assay in lymphoblasts or fibroblasts. To obtain enough cells, these cells need to be cultured for at least 1 month...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28220082/synaptic-and-neuronal-autoantibody-associated-psychiatric-syndromes-controversies-and-hypotheses
#12
Adam Al-Diwani, Thomas A Pollak, Alexander E Langford, Belinda R Lennox
Autoimmune encephalitis (AE) mediated by antibodies against synaptic and neuronal surface targets frequently presents with a psychiatric syndrome. In these patients, removal of autoantibodies treats the disease and outcomes are closely linked to early intervention. The discovery of these autoantibodies in isolated psychiatric syndromes has raised the possibility that these patients may derive similar benefits from immunotherapy, a potentially transformational approach to the treatment of mental illness. Although open-label case series suggest impressive therapeutic outcomes, the pathological relevance of these autoantibodies outside of canonical presentations is debated...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28217169/psychiatric-presentation-of-childhood-epilepsy-case-series-and-review
#13
Rahul Saha, M K Srivastava, Kuljeet Singh Anand
Childhood-onset epilepsy has a varied presentation and may have different etiological factors. A multiaxial diagnostic approach should be used before making treatment and management decisions for any individual patient. It is widely accepted that distinction among primary psychiatric disorders, epilepsy, and nonepileptic seizures is a challenge for physicians. This case series demonstrated the identification of three atypical presentations of seizures in children on the basis of detailed history taking and electroencephalogram findings, despite having normal findings in neurological examination and magnetic resonance imaging...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28216637/mutations-underlying-episodic-ataxia-type-1-antagonize-kv1-1-rna-editing
#14
Elizabeth A Ferrick-Kiddie, Joshua J C Rosenthal, Gregory D Ayers, Ronald B Emeson
Adenosine-to-inosine RNA editing in transcripts encoding the voltage-gated potassium channel Kv1.1 converts an isoleucine to valine codon for amino acid 400, speeding channel recovery from inactivation. Numerous Kv1.1 mutations have been associated with the human disorder Episodic Ataxia Type-1 (EA1), characterized by stress-induced ataxia, myokymia, and increased prevalence of seizures. Three EA1 mutations, V404I, I407M, and V408A, are located within the RNA duplex structure required for RNA editing. Each mutation decreased RNA editing both in vitro and using an in vivo mouse model bearing the V408A allele...
February 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28216033/safety-of-transcranial-magnetic-stimulation-in-children-a-systematic-review-of-the-literature
#15
REVIEW
Corey H Allen, Benzi M Kluger, Isabelle Buard
BACKGROUND: Data and best practice recommendations for transcranial magnetic stimulation (TMS) use in adults are largely available. Although there are fewer data in pediatric populations and no published guidelines, its practice in children continues to grow. METHODS: We performed a literature search through PubMed to review all TMS studies from 1985 to 2016 involving children and documented any adverse events. Crude risks were calculated per session. RESULTS: Following data screening we identified 42 single-pulse and/or paired-pulse TMS studies involving 639 healthy children, 482 children with central nervous system disorders, and 84 children with epilepsy...
January 4, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28214985/melatonin-alleviates-the-epilepsy-associated-impairments-in-hippocampal-ltp-and-spatial-learning-through-rescue-of-surface-glur2-expression-at-hippocampal-ca1-synapses
#16
Yue Ma, Xiaolong Sun, Juan Li, Ruihua Jia, Fang Yuan, Dong Wei, Wen Jiang
Epilepsy-associated cognitive impairment is common, and negatively impacts patients' quality of life. However, most antiepileptic drugs focus on the suppression of seizures, and fewer emphasize treatment of cognitive dysfunction. Melatonin, an indolamine synthesized primarily in the pineal grand, is reported to be neuroprotective against several central nervous system disorders. In this study, we investigated whether melatonin could reverse cognitive dysfunction in lithium-pilocarpine treated rats. Chronic treatment with melatonin (8 mg/kg daily for 15 days) after induction of status epilepticus significantly alleviated seizure severity, reduced neuronal death in the CA1 region of the hippocampus, improved spatial learning (as measured by the Morris water maze test), and reversed LTP impairments, compared to vehicle treatment...
February 18, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28214290/evaluate-the-efficacy-and-safety-of-anti-epileptic-medications-for-partial-seizures-of-epilepsy-a-network-meta-analysis
#17
Teng Zhao, Xuemin Feng, Jingyao Liu, Jiguo Gao, Chunkui Zhou
Epilepsy is a brain and neurological disorder with high prevalence. It was reported that more than 70% of epileptic seizures were controlled by anti-epileptic medications, whereas the lack of evidence with respect to head-to-head comparisons motivated researchers to seek alternative approaches that are able to provide deep insights into the profile of anti-epileptic medications. In this study, we performed a network meta-analysis (NMA) to evaluate the efficacy and safety of anti-epileptic medications for partial seizures of epilepsy...
February 18, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28212785/the-role-of-driver-nodes-in-managing-epileptic-seizures-application-of-kuramoto-model
#18
Ali Mohseni, Shahriar Gharibzadeh, Fatemeh Bakouie
Synchronization is an important global phenomenon which could be found in a wide range of complex systems such as brain or electronic devices. However, in some circumstances the synchronized states are not desirable for the system and should be suppressed. For example, excessively synchronized activities in the brain network could be the root of neuronal disorders like epileptic seizures. According to the controllability theory of the complex networks, a minimum set of driver nodes has the ability to control the entire system...
February 15, 2017: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/28211972/tsc2-c-1864c-t-variant-associated-with-mild-cases-of-tuberous-sclerosis-complex
#19
Laura S Farach, William T Gibson, Steven P Sparagana, Mark Nellist, Connie T R M Stumpel, Marja Hietala, Elliott Friedman, Deborah A Pearson, Susan P Creighton, Annemiek Wagemans, Reveel Segel, Efrat Ben-Shalom, Kit Sing Au, Hope Northrup
Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disorder with variable expressivity associated with hamartomatous tumors, abnormalities of the skin, and neurologic problems including seizures, intellectual disability, and autism. TSC is caused by pathogenic variants in either TSC1 or TSC2. In general, TSC2 pathogenic variants are associated with a more severe phenotype than TSC1 pathogenic variants. Here, we report a pathogenic TSC2 variant, c.1864C>T, p.(Arg622Trp), associated with a mild phenotype, with most carriers meeting fewer than two major clinical diagnostic criteria for TSC...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211248/anesthetic-considerations-for-pediatric-electroconvulsive-therapy
#20
REVIEW
Andrew D Franklin, Jenna H Sobey, Eric T Stickles
Electroconvulsive therapy is being used more frequently in the treatment of many chronic and acute psychiatric illnesses in children. The most common psychiatric indications for pediatric electroconvulsive therapy are refractory depression, bipolar disorder, schizophrenia, catatonia, and autism. In addition, a relatively new indication is the treatment of pediatric refractory status epilepticus. The anesthesiologist may be called upon to assist in the care of this challenging and vulnerable patient population...
February 17, 2017: Paediatric Anaesthesia
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