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Epilepsy in childhood

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https://www.readbyqxmd.com/read/29050398/delineating-sptan1-associated-phenotypes-from-isolated-epilepsy-to-encephalopathy-with-progressive-brain-atrophy
#1
Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Burglen, Jonas Denecke, Bénédicte Heron, Henrike O Heyne, Georg F Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, G Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E Verbeek, Rikke S Møller, Bobby Koeleman, Naomichi Matsumoto, William B Dobyns, Domenica Battaglia, Johannes R Lemke, Kerstin Kutsche, Renzo Guerrini
De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with hypomyelination and pontocerebellar atrophy. We aimed at comprehensively delineating the phenotypic spectrum associated with SPTAN1 mutations. Using different molecular genetic techniques, we identified 20 patients with a pathogenic or likely pathogenic SPTAN1 variant and reviewed their clinical, genetic and imaging data. SPTAN1 de novo alterations included seven unique missense variants and nine in-frame deletions/duplications of which 12 were novel...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29047147/case-control-pharmacogenetic-study-of-hcn1-hcn2-variants-and-genetic-generalized-epilepsies
#2
Shu-Zhi Wu, Hua Ye, Xiao-Guo Yang, Zhi-Li Lu, Qiang Qu, Jian Qu
Epilepsy is a common complex neurological disorder, and some forms are resistant to drug treatment. The HCN1/HCN2 genes encode hyperpolarization-activated cyclic nucleotide-gated channels, which play important roles in the electrophysiology of neurons. We investigated the association between HCN1/HCN2 variants and drug resistance or the risk of genetic generalized epilepsies (GGEs). We used matrix-assisted laser desorption/ionization time-of-flight mass spectrometry to assess nine variants of HCN1/HCN2 in 284 healthy participants and 483 GGEs (279 drug-responsive, 204 drug-resistant)...
October 19, 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/29046235/white-matter-integrity-correlates-with-depressive-symptomatology-in-temporal-lobe-epilepsy
#3
Brian Kavanaugh, Stephen Correia, Jacob Jones, Andrew Blum, W Curt LaFrance, Jennifer Duncan Davis
RATIONALE: White matter abnormalities occur in both temporal lobe epilepsy (TLE) and depression, but there is limited research examining the depression-white matter association in depressed individuals with TLE. This study examined the relationship between white matter integrity (WMI) and depression including the influence of age at seizure onset, in adults with TLE, TLE and depression, and depression only. METHODS: Thirty-one adults were in one of three groups: TLE without depression (TLE; n=11), TLE with depression (TLE+DEP; n=9), and depression without TLE (DEP; n=11)...
October 16, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29045978/-clinicopathologic-features-of-infant-dysembryoplastic-neuroepithelial-tumor-a-case-report-and-literature-review
#4
H Wang, J T Ye, H X Yao, D Li, Y Dong
Dysembryoplastic neuroepithelial tumor (DNT) has traditionally been viewed as rare benign tumors that present with seizure widely considered curable with surgery alone. Most DNTs occur in childhood and young adults. However, rare reported cases occur in infants. This paper reported an infant case of DNT and its diagnosis, differential diagnosis, treatment, molecular features and prognosis based on the review of current literatures. The age onset of this patient was only 11 months old. The clinical manifestations were partial seizures and the imaging data untypical; CT and MRI were all supportive of astrocytoma...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29042521/-transition-of-children-with-epilepsy-to-adult-care-current-status-and-challenge
#5
Hidemoto Kubota
Thirty percent of the patients consulting a pediatric neurologist have already reached adulthood as patients and their families do not like transfer to the adult clinics; moreover, there are no suitable clinics. Pediatric neurologists find it difficult to examine adult patients with childhood-onset epilepsy as they are unfamiliar with the psychiatric and psychological symptoms manifested in adulthood, and the common diseases of adulthood. On the other hand, adult neurologists have difficulty obtaining a complete picture of the patient's clinical history since childhood, and are unfamiliar with childhood-specific epilepsy syndrome...
October 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29031192/growth-and-endocrine-function-in-children-with-dravet-syndrome
#6
Krista Eschbach, Sharon Scarbro, Elizabeth Juarez-Colunga, Victoria Allen, Stephanie Hsu, Kelly Knupp
PURPOSE: Dravet syndrome is an intractable childhood epilepsy syndrome most often associated with an SCN1A mutation. In our clinical practice, several patients with Dravet syndrome were noted to have short stature and endocrine dysfunction. This has not been reported in the literature. Our study aim was to describe growth measurements and endocrine abnormalities in children with Dravet syndrome. METHOD: A retrospective chart review was performed at a single institution...
September 29, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28992996/attention-profiles-in-childhood-absence-epilepsy-compared-with-attention-deficit-hyperactivity-disorder
#7
Hyun-Jeong Lee, Eun-Hee Kim, Mi-Sun Yum, Tae-Sung Ko, Hyo-Won Kim
OBJECTIVE: This study aimed to compare the attention profiles of subjects with childhood absence epilepsy (CAE) to those of children with attention-deficit/hyperactivity disorder (ADHD) and controls. METHOD: We retrospectively reviewed the medical records of 20 children (age 7.2 ± 1.6 years, 5 boys) in whom CAE was diagnosed at the Department of Pediatric Neurology of Asan Medical Center, Seoul, Korea. ADHD and control subjects were selected from children who visited the Department of Pediatric Psychiatry and were confirmed as having or not having ADHD based on Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) and the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime version (K-SADS-PL)...
October 6, 2017: Brain & Development
https://www.readbyqxmd.com/read/28988699/disruption-of-ankyrin-b-and-caveolin-1-interaction-sites-alters-na-k-atpase-membrane-diffusion
#8
Cornelia Junghans, Vladana Vukojević, Neslihan N Tavraz, Eugene G Maksimov, Werner Zuschratter, Franz-Josef Schmitt, Thomas Friedrich
The Na(+),K(+)-ATPase is a plasma membrane ion transporter of high physiological importance for ion homeostasis and cellular excitability in electrically active tissues. Mutations in the genes coding for Na(+),K(+)-ATPase α-subunit isoforms lead to severe human pathologies including Familial Hemiplegic Migraine type 2, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia Parkinsonism, or epilepsy. Many of the reported mutations lead to change- or loss-of-function effects, whereas others do not alter the functional properties, but lead to, e...
October 5, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28983902/intractable-seizures-after-a-lengthy-remission-in-childhood-onset-epilepsy
#9
Peter R Camfield, Carol S Camfield
OBJECTIVES: To establish the risk of subsequent intractable epilepsy after ≥2, ≥5, and ≥10 years of remission in childhood-onset epilepsy. METHODS: From the Nova Scotia childhood-onset epilepsy population-based cohort patients with all types of epilepsy were selected with ≥20 years follow-up from seizure onset (incidence cases). Children with childhood absence epilepsy were excluded. The rate of subsequent intractable epilepsy was then studied for patients with ≥5 years remission on or off AED treatment and compared with the rate for those with ≥2 and ≥10 years of remission...
October 6, 2017: Epilepsia
https://www.readbyqxmd.com/read/28974841/effects-of-carbamazepine-and-valproate-on-serum-aspartate-aminotransferase-alanine-aminotransferase-and-gamma-glutamyltransferase-in-children
#10
Feriha Hadzagic-Catibusic, Edo Hasanbegovic, Melika Melunovic, Smail Zubcevic, Sajra Uzicanin
INTRODUCTION: Epilepsy is one of the most common neurological diseases in childhood and adolescence. Carbamazepine (CBZ) and valproate (VPA) have been widely used as the first generation of antiepileptic drugs (AED). AIM: The aim of the study has been to evaluate and compare the effect of CBZ and VPA monotherapy on aspartate aminotransferase (AST), alanine aminotransferase (ALT) and gamma-glutamyltransferase (GGT) serum levels in children. MATERIAL AND METHODS: The study has included 100 patients (boys 57/girls 43, age range 1 to 18 years), who have been treated with CBZ or VPA, as initial monotherapy, for at least 12 months...
August 2017: Medical Archives
https://www.readbyqxmd.com/read/28973916/cannabidiol-attenuates-seizures-and-social-deficits-in-a-mouse-model-of-dravet-syndrome
#11
Joshua S Kaplan, Nephi Stella, William A Catterall, Ruth E Westenbroek
Worldwide medicinal use of cannabis is rapidly escalating, despite limited evidence of its efficacy from preclinical and clinical studies. Here we show that cannabidiol (CBD) effectively reduced seizures and autistic-like social deficits in a well-validated mouse genetic model of Dravet syndrome (DS), a severe childhood epilepsy disorder caused by loss-of-function mutations in the brain voltage-gated sodium channel NaV1.1. The duration and severity of thermally induced seizures and the frequency of spontaneous seizures were substantially decreased...
October 2, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28971013/presurgical-thalamocortical-connectivity-is-associated-with-response-to-vagus-nerve-stimulation-in-children-with-intractable-epilepsy
#12
George M Ibrahim, Priya Sharma, Ann Hyslop, Magno R Guillen, Benjamin R Morgan, Simeon Wong, Taylor J Abel, Lior Elkaim, Iahn Cajigas, Ashish H Shah, Aria Fallah, Alexander G Weil, Nolan Altman, Byron Bernal, Santiago Medina, Elysa Widjaja, Prasanna Jayakar, John Ragheb, Sanjiv Bhatia
Although chronic vagus nerve stimulation (VNS) is an established treatment for medically-intractable childhood epilepsy, there is considerable heterogeneity in seizure response and little data are available to pre-operatively identify patients who may benefit from treatment. Since the therapeutic effect of VNS may be mediated by afferent projections to the thalamus, we tested the hypothesis that intrinsic thalamocortical connectivity is associated with seizure response following chronic VNS in children with epilepsy...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28967695/intravenous-immunoglobulin-for-the-treatment-of-childhood-encephalitis
#13
REVIEW
Mildred A Iro, Natalie G Martin, Michael Absoud, Andrew J Pollard
BACKGROUND: Encephalitis is a syndrome of neurological dysfunction due to inflammation of the brain parenchyma, caused by an infection or an exaggerated host immune response, or both. Attenuation of brain inflammation through modulation of the immune response could improve patient outcomes. Biological agents such as immunoglobulin that have both anti-inflammatory and immunomodulatory properties may therefore be useful as adjunctive therapies for people with encephalitis. OBJECTIVES: To assess the efficacy and safety of intravenous immunoglobulin (IVIG) as add-on treatment for children with encephalitis...
October 2, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28965695/-evaluating-a-child-after-a-febrile-seizure-insights-on-three-important-issues
#14
S Auvin, M Antonios, G Benoist, M-A Dommergues, F Corrard, V Gajdos, C Gras Leguen, E Launay, A Salaün, L Titomanlio, L Vallée, M Milh
Febrile seizures (FS) are the most common seizures seen in the paediatric population in the out-of-hospital and emergency department settings, and they account for the majority of seizures seen in children younger than 5 years old. An FS is a seizure accompanied by fever, without central nervous system infection, occurring in children between 6 months and 5 years old. Five criteria have been used and taught to classify any FS as simple or complex FS. These factors do not bear the same significance for clinical practice, in particular, the decision to perform a lumbar puncture for cerebrospinal fluid analysis to rule out an intracranial infection...
September 28, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28965491/compound-heterozygous-mutations-in-uba5-causing-early-onset-epileptic-encephalopathy-in-two-sisters
#15
Gudny A Arnadottir, Brynjar O Jensson, Sigurdur E Marelsson, Gerald Sulem, Asmundur Oddsson, Ragnar P Kristjansson, Stefania Benonisdottir, Sigurjon A Gudjonsson, Gisli Masson, Gudmundur A Thorisson, Jona Saemundsdottir, Olafur Th Magnusson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Daniel F Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Kari Stefansson
BACKGROUND: Epileptic encephalopathies are a group of childhood epilepsies that display high phenotypic and genetic heterogeneity. The recent, extensive use of next-generation sequencing has identified a large number of genes in epileptic encephalopathies, including UBA5 in which biallelic mutations were first described as pathogenic in 2016 (Colin E et al., Am J Hum Genet 99(3):695-703, 2016. Muona M et al., Am J Hum Genet 99(3):683-694, 2016). UBA5 encodes an activating enzyme for a post-translational modification mechanism known as ufmylation, and is the first gene from the ufmylation pathway that is linked to disease...
October 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28961316/reduced-infancy-and-childhood-epilepsy-following-hypothermia-treated-neonatal-encephalopathy
#16
Xun Liu, Sally Jary, Frances Cowan, Marianne Thoresen
OBJECTIVE: To investigate what proportion of a regional cohort of cooled infants with neonatal encephalopathy develop epilepsy (determined by the International League Against Epilepsy [ILAE] definition and the number of antiepileptic drugs [AEDs]) up to 8 years of age. METHODS: From 2006-2013, 151 infants with perinatal asphyxia underwent 72 h cooling. Clinical and amplitude-integrated electroencepalography (aEEG) with single-channel EEG-verified neonatal seizures were treated with AEDs...
September 29, 2017: Epilepsia
https://www.readbyqxmd.com/read/28959217/attention-contributes-to-arithmetic-deficits-in-new-onset-childhood-absence-epilepsy
#17
Dazhi Cheng, Xiuxian Yan, Zhijie Gao, Keming Xu, Qian Chen
Neuropsychological studies indicate that new-onset childhood absence epilepsy (CAE) is associated with deficits in attention and executive functioning. However, the contribution of these deficits to impaired academic performance remains unclear. We aimed to examine whether attention and executive functioning deficits account for the academic difficulties prevalent in patients with new-onset CAE. We analyzed cognitive performance in several domains, including language, mathematics, psychomotor speed, spatial ability, memory, general intelligence, attention, and executive functioning, in 35 children with new-onset CAE and 33 control participants...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28950220/brain-glucose-metabolism-and-its-relation-to-amyloid-load-in-middle-aged-adults-with-childhood-onset-epilepsy
#18
Juho Joutsa, Juha O Rinne, Mira Karrasch, Bruce Hermann, Jarkko Johansson, Anu Anttinen, Olli Eskola, Semi Helin, Shlomo Shinnar, Matti Sillanpää
Uncomplicated childhood-onset epilepsy is associated with increased brain amyloid load at late middle age, but its possible association with Alzheimer-type neurodegenerative processes is unclear. After 50-year follow-up, 42 childhood onset epilepsy subjects and 45 matched controls were investigated with [(18)F]fluorodeoxyglucose PET. There were no significant differences between the subjects and controls, but higher [(18)F]fluorodeoxyglucose uptake was associated with a higher local amyloid load (as measured with [(11)C]PIB PET) in the prefrontal cortex, parietal cortex, and posterior cingulate/precuneus in subjects but not in controls...
September 20, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28949013/seizures-syndromes-and-etiologies-in-childhood-epilepsy-the-international-league-against-epilepsy-1981-1989-and-2017-classifications-used-in-a-population-based-cohort
#19
Kari Modalsli Aaberg, Pål Surén, Camilla Lund Søraas, Inger Johanne Bakken, Morten I Lossius, Camilla Stoltenberg, Richard Chin
OBJECTIVE: The study provides updated information about the distribution of seizures, epilepsies, and etiologies of epilepsy in the general child population, and compares the old and new classification systems from the International League Against Epilepsy (ILAE). METHODS: The study platform was the Norwegian Mother and Child Cohort Study. Cases of epilepsy were identified through registry linkages and sequential parental questionnaires. Epilepsy diagnoses were validated using a standardized protocol, and seizures, epilepsies, and etiologies were classified according to the old (ILAE 1981/1989) and new (ILAE 2017) classifications...
September 26, 2017: Epilepsia
https://www.readbyqxmd.com/read/28948997/emotional-well-being-in-children-with-epilepsy-family-factors-as-mediators-and-moderators
#20
Shane W Goodwin, Piotr Wilk, M Karen Campbell, Kathy N Speechley
OBJECTIVE: Our objective was to examine the relationships of factors associated with children's emotional well-being 2 years after diagnosis, and to examine if these relationships are mediated or moderated by family factors. METHODS: Data came from a multicenter prospective cohort study of children with newly diagnosed epilepsy from across Canada (Health-Related Quality of Life in Children with Epilepsy Study; HERQULES, n = 373). Emotional well-being was assessed using the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE-55)...
September 26, 2017: Epilepsia
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