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https://www.readbyqxmd.com/read/28229464/modified-atkins-diet-is-an-effective-treatment-for-children-with-doose-syndrome
#1
Adelheid Wiemer-Kruel, Edda Haberlandt, Hans Hartmann, Gabriele Wohlrab, Thomas Bast
OBJECTIVE: Children with myoclonic astatic epilepsy (MAE; Doose syndrome) whose seizures do not respond immediately to standard antiepileptic drugs (AEDs) are at high risk of developing an epileptic encephalopathy with cognitive decline. A classic ketogenic diet (KD) is a highly effective alternative to AEDs. To date, there are only limited data on the effectiveness of the modified Atkins diet (MAD), which is less restrictive and more compatible with daily life. We report findings from a retrospective study on 30 MAE patients treated with MAD...
February 23, 2017: Epilepsia
https://www.readbyqxmd.com/read/28229395/transcranial-magnetic-and-direct-current-stimulation-in-children
#2
REVIEW
Mustafa Q Hameed, Sameer C Dhamne, Roman Gersner, Harper L Kaye, Lindsay M Oberman, Alvaro Pascual-Leone, Alexander Rotenberg
Promising results in adult neurologic and psychiatric disorders are driving active research into transcranial brain stimulation techniques, particularly transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS), in childhood and adolescent syndromes. TMS has realistic utility as an experimental tool tested in a range of pediatric neuropathologies such as perinatal stroke, depression, Tourette syndrome, and autism spectrum disorder (ASD). tDCS has also been tested as a treatment for a number of pediatric neurologic conditions, including ASD, attention-deficit/hyperactivity disorder, epilepsy, and cerebral palsy...
February 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28229394/epileptic-encephalopathies-clinical-syndromes-and-pathophysiological-concepts
#3
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/28226088/epilepsy-and-early-onset-overgrowth-syndrome-revealing-sotos-syndrome
#4
Wladimir Bocca Vieira de Rezende Pinto, Paulo Victor Sgobbi de Souza, Thiago Bortholin, Erika Lopes Honorato, Leonardo Favi Bocca, Acary Souza Bulle Oliveira
No abstract text is available yet for this article.
February 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28225977/identifying-the-incidence-of-rash-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis-in-patients-taking-lamotrigine-a-systematic-review-of-122-randomized-controlled-trials
#5
Romi Bloom, Kyle T Amber
Lamotrigine is an antiepileptic drug used for the treatment of epilepsy, bipolar disorder and numerous off-label uses. The development of rash significantly affects its use. The most concerning of these adverse reactions is Stevens-Johnson syndrome/toxic epidermal necrolysis. We performed a systematic review of randomized controlled trials using lamotrigine as a monotherapy to quantify the incidence of cutaneous reactions, particularly Stevens-Johnson syndrome/toxic epidermal necrolysis. Of a total of 4,364 papers regarding lamotrigine, 122 studies met our inclusion and exclusion criteria...
January 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28221394/sv%C3%A3-r-reaktion-av-antiepileptikum-hos-kvinna-med-ursprung-fr%C3%A3-n-asien-karbamazepininducerat-stevens%C3%A2-johnsons-syndrom-toxisk-epidermal-nekrolys-vanligare-hos-personer-med-viss-asiatisk-h%C3%A3-rkomst
#6
Stavroula Anastasopoulou, Magdalena Komuda, Benjamin Presman, Maria Karlsson, Torbjörn Tomson
Stevens-Johnson syndrome/toxic epidermal necrolysis after initiation of carbamazepine in a HLA-B*15:02 gene carrier - screening in risk patients is recommended A 32-year-old woman, adopted from Indonesia, developed Stevens-Johnsons syndrome (SJS)/toxic epidermal necrolysis (TEN) after initiating carbamazepine treatment for epilepsy. SJS and TEN are rare but life-threatening adverse effects of carbamazepine, with a 72-100% risk of occurrence in patients carrying the HLA-B*15:02 allele. The HLA-B*15:02 allele is common in several Asian groups but less prevalent in European populations...
February 21, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28218389/confirming-the-recessive-inheritance-of-scn1b-mutations-in-developmental-epileptic-encephalopathy
#7
Wafaa Ramadan, Nisha Patel, Shamsa Anazi, Amal Y Kentab, Fahad A Bashiri, Muddathir H Hamad, Lamya Jad, Mustafa A Salih, Hessa Alsaif, Mais Hashem, Eissa Faqeih, Hanan E Shamseddin, Fowzan S Alkuraya
Dominant SCN1B mutations are known to cause several epilepsy syndromes in humans. Only two epilepsy patients to date have been reported to have recessive mutations in SCN1B as the likely cause of their phenotype. Here, we confirm the recessive inheritance of two novel SCN1B mutations in five children from three families with developmental epileptic encephalopathy. The recessive inheritance and early death in these patients is consistent with the Dravet-like phenotype observed in Scn1b(-/-) mice. The "negative" clinical exome in one of these families highlight the need to consider recessive mutations in the interpretation of variants in typically dominant genes...
February 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28216336/pathophysiology-of-absence-epilepsy-insights-from-genetic-models
#8
REVIEW
Antoine Depaulis, Stéphane Charpier
Absence Epilepsy (AE) is a prototypic epileptic syndrome that develops during brain maturation but cannot be fully explored in human patients. Genetic animal models, especially rats with spike-and-wave discharges recorded on the electroencephalogram, the hallmark of absence seizures, offer strong face validity with the human pathology that allows precise exploration of the pathophysiology of this form of epilepsy. Using an array of different methods, recent studies have demonstrated that spike-and-wave discharges are initiated in the primary somatosensory cortex and then rapidly propagate to motor cortices and thalamic nuclei...
February 16, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28215998/photosensitivity-in-generalized-epilepsies
#9
REVIEW
Shervonne Poleon, Jerzy P Szaflarski
Photosensitivity, which is the hallmark of photosensitive epilepsy (PSE), is described as an abnormal EEG response to visual stimuli known as a photoparoxysmal response (PPR). The PPR is a well-recognized phenomenon, occurring in 2-14% of patients with epilepsy but its pathophysiology is not clearly understood. PPR is electrographically described as 2-5Hz spike, spike-wave, or slow wave complexes with frontal and paracentral prevalence. Diagnosis of PPR is confirmed using intermittent photic stimulation (IPS) as well as video monitoring...
February 16, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28214165/agenesis-of-the-corpus-callosum-and-aicardi-syndrome-a%C3%A2-neuroimaging-and-clinical-comparison
#10
T Govil-Dalela, A Kumar, R Agarwal, H T Chugani
BACKGROUND: Agenesis of the corpus callosum can occur in individuals with epilepsy, either in isolation or as part of various neurological conditions, such as Aicardi syndrome. In this study, we evaluated the clinical and neuroradiological differences between children with nonsyndromic agenesis of the corpus callosum and those with Aicardi syndrome. METHODS: We evaluated 31 children with epilepsy and agenesis of the corpus callosum (11 males, 20 females), 14 of whom had Aicardi syndrome (all females)...
January 4, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28212850/human-astrocytes-in-the-diseased-brain
#11
Elena Dossi, Flora Vasile, Nathalie Rouach
Astrocytes are key active elements of the brain that contribute to information processing. They not only provide neurons with metabolic and structural support, but also regulate neurogenesis and brain wiring. Furthermore, astrocytes modulate synaptic activity and plasticity in part by controlling the extracellular space volume, as well as ion and neurotransmitter homeostasis. These findings, together with the discovery that human astrocytes display contrasting characteristics with their rodent counterparts, point to a role for astrocytes in higher cognitive functions...
February 13, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/28210849/developmental-changes-in-notch1-and-nle1-expression-in-a-genetic-model-of-absence-epilepsy
#12
Fariba Karimzadeh, Sayed Mostafa Modarres Mousavi, Fatemeh Alipour, Hassan Hosseini Ravandi, Stjepana Kovac, Ali Gorji
Childhood absence epilepsy (CAE) is an epilepsy syndrome with seizures occurring in the early childhood, highlighting that seizures susceptibility in CAE is dependent on brain development. The Notch 1 signalling pathway is important in brain development, yet the role of the Notch1 signalling pathway in CAE remains elusive. We here explored Notch1 and its modulator notchless homologue 1 (NLE1) expression in WAG/Rij and control rats using immunohistochemistry. Functional Notch 1 effects were assessed in WAG/Rij rats in vivo...
February 16, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28209769/seizures-in-children-with-cerebral-palsy-and-white-matter-injury
#13
Monica S Cooper, Mark T Mackay, Michael Fahey, Dinah Reddihough, Susan M Reid, Katrina Williams, A Simon Harvey
OBJECTIVE: The goal of this study was to describe the prevalence, syndromes, and evolution of seizure disorders in children with cerebral palsy (CP) due to white matter injury (WMI). METHODS: For this population-based cohort study, brain MRI scans and medical records were reviewed in children in the Victorian Cerebral Palsy Register born between 1999 and 2006 recorded as having WMI. Children were excluded if they had features of an undiagnosed syndrome, associated cortical malformation or injury, or no medical contact in the preceding year...
February 16, 2017: Pediatrics
https://www.readbyqxmd.com/read/28208982/delusional-disorder-in-a-patient-with-corpus-callosum-agenesis
#14
M S Bhatia, Rashmita Saha, Nimisha Doval
Agenesis of corpus callosum is rare and associated neuropsychiatric abnormalities reported are epilepsy, Asperger's syndrome, learning problems, depression, schizophrenia, conduct disorder and conversion symptoms. Schizophrenia is the most common psychiatric disorder reported among corpus callosum agenesis. We report a rare case of delusional disorder with corpus callosum agenesis and seizure disorder. The patient presented with delusions of persecution towards younger brother and mother, disturbed sleep and reduced appetite...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208940/neurological-disorders-complicating-pregnancy-focus-on-obstetric-outcome
#15
Sandya Renukesh, Lavanya Rai
INTRODUCTION: Neurological disorders in pregnancy can be pregnancy related or can be caused by exacerbation of a pre-existing neurological condition or sometimes may even be detected for the first time during pregnancy in which it might be an incidental finding. The diagnosis and management of the neurological disorders in pregnancy is always a challenging task due to varied symptomatology and risks to the fetus. The evaluation and management should be performed in a stepwise fashion and requires multidisciplinary approach...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208904/a-cross-sectional-study-of-quality-of-life-among-subjects-with-epilepsy-attending-a-tertiary-care-hospital
#16
M Anu, K Suresh, P L Basavanna
INTRODUCTION: Epilepsy is a chronic disorder associated with profound physical and psychological consequences leading to impaired quality of life (QoL). Evaluation of the QoL among epileptics would throw light on various factors that impair or affect the QoL in such a population. AIM: To study the QoL among epileptic patients attending outpatient departments of a tertiary care hospital and to identify various factors that affect the QoL in such a population. MATERIALS AND METHODS: A cross-sectional observational questionnaire based study, including patients with epilepsy, who were on antiepileptic drugs, on follow-up for minimum one year, aged more than 18years, both sexes and who were seizure free in the previous 24hours...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28203156/papular-epidermal-nevus-with-skyline-basal-cell-layer-syndrome-natural-course-case-report-and-literature-review
#17
Carole Anouk Zahn, Peter Itin
Papular epidermal nevus with "skyline" basal cell layer (PENS) is a very rare type of keratinocytic nevus and is associated with extracutaneous findings such as neurological symptoms in about 50% of the cases. Therefore, it is also referred to as PENS syndrome. Clinically visible hyperkeratotic papules and plaques already appear at birth or shortly thereafter, while neurological symptoms such as epilepsy and mental retardation manifest themselves during childhood. Genetics suggests gonadal mosaicism as a possible cause for the disease...
January 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28202778/nodding-syndrome-preventable-and-treatable
#18
REVIEW
Robert Colebunders, Maarten J Titulaer
New insights into the pathophysiology of nodding syndrome, a form of childhood epilepsy associated with onchocerciasis, provide new opportunities for disease treatment and parasite control (Johnson et al).
February 15, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28202706/clinical-and-genetic-factors-predicting-dravet-syndrome-in-infants-with-scn1a-mutations
#19
Valentina Cetica, Sara Chiari, Davide Mei, Elena Parrini, Laura Grisotto, Carla Marini, Daniela Pucatti, Annarita Ferrari, Federico Sicca, Nicola Specchio, Marina Trivisano, Domenica Battaglia, Ilaria Contaldo, Nelia Zamponi, Cristina Petrelli, Tiziana Granata, Francesca Ragona, Giuliano Avanzini, Renzo Guerrini
OBJECTIVE: To explore the prognostic value of initial clinical and mutational findings in infants with SCN1A mutations. METHODS: Combining sex, age/fever at first seizure, family history of epilepsy, EEG, and mutation type, we analyzed the accuracy of significant associations in predicting Dravet syndrome vs milder outcomes in 182 mutation carriers ascertained after seizure onset. To assess the diagnostic accuracy of all parameters, we calculated sensitivity, specificity, receiver operating characteristic (ROC) curves, diagnostic odds ratios, and positive and negative predictive values and the accuracy of combined information...
February 15, 2017: Neurology
https://www.readbyqxmd.com/read/28202406/cannabis-cultivation-methodological-issues-for-obtaining-medical-grade-product
#20
REVIEW
Suman Chandra, Hemant Lata, Mahmoud A ElSohly, Larry A Walker, David Potter
As studies continue to reveal favorable findings for the use of cannabidiol in the management of childhood epilepsy syndromes and other disorders, best practices for the large-scale production of Cannabis are needed for timely product development and research purposes. The processes of two institutions with extensive experience in producing large-scale cannabidiol chemotype Cannabis crops-GW Pharmaceuticals and the University of Mississippi-are described, including breeding, indoor and outdoor growing, harvesting, and extraction methods...
February 12, 2017: Epilepsy & Behavior: E&B
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