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Occipital epilepsy

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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
#1
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/28228835/recurrent-alternate-sided-homonymous-hemianopia-due-to-mitochondrial-encephalomyopathy-with-lactic-acidosis-and-stroke-like-episodes-melas-a-case-report
#2
Kristen M Krysko, Arun N E Sundaram
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) can rarely cause alternate-sided homonymous hemianopia due to stroke-like episodes involving the occipital lobes, as reported in three previously published cases. The authors report an interesting case of a 16-year-old presenting with myoclonic epilepsy due to MELAS with the rare ND3 mitochondrial mutation T10191C, with recurrent alternate-sided homonymous hemianopia. Visual field and corresponding magnetic resonance imaging (MRI) findings are presented...
February 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28222686/ipsiversive-ictal-eye-deviation-in-inferioposterior-temporal-lobe-epilepsy-two-seeg-cases-report
#3
Wei Zhang, Xingzhou Liu, Lijun Zuo, Qiang Guo, Qi Chen, Yongjun Wang
BACKGROUND: Versive seizure characterized by conjugate eye movement during epileptic seizure has been considered commonly as one of the most valuable semiological signs for epilepsy localization, especially for frontal lobe epilepsy. However, thelateralizing and localizing significance of ictaleye deviation has been questioned by clinical observation of a series of focal epilepsy studies, including frontal, central, temporal, parietal and occipital epilepsy. CASE PRESENTATION: Two epileptic cases characterized by ipsiversive eye deviation as initial clinical sign during the habitual epileptic seizures are presented in this paper...
February 21, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28209769/seizures-in-children-with-cerebral-palsy-and-white-matter-injury
#4
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/28188918/evaluation-of-multimodal-segmentation-based-on-3d-t1-t2-and-flair-weighted-images-the-difficulty-of-choosing
#5
Tobias Lindig, Raviteja Kotikalapudi, Daniel Schweikardt, Pascal Martin, Friedemann Bender, Uwe Klose, Ulrike Ernemann, Niels K Focke, Benjamin Bender
Voxel-based morphometry is still mainly based on T1-weighted MRI scans. Misclassification of vessels and dura mater as gray matter has been previously reported. Goal of the present work was to evaluate the effect of multimodal segmentation methods available in SPM12, and their influence on identification of age related atrophy and lesion detection in epilepsy patients. 3D T1-, T2- and FLAIR-images of 77 healthy adults (mean age 35.8 years, 19-66 years, 45 females), 7 patients with malformation of cortical development (MCD) (mean age 28...
February 7, 2017: NeuroImage
https://www.readbyqxmd.com/read/28123951/large-scale-cortico-subcortical-functional-networks-in-focal-epilepsies-the-role-of-the-basal-ganglia
#6
Eva Výtvarová, Radek Mareček, Jan Fousek, Ondřej Strýček, Ivan Rektor
OBJECTIVES: The aim was to describe the contribution of basal ganglia (BG) thalamo-cortical circuitry to the whole-brain functional connectivity in focal epilepsies. METHODS: Interictal resting-state fMRI recordings were acquired in 46 persons with focal epilepsies. Of these 46, 22 had temporal lobe epilepsy: 9 left temporal (LTLE), 13 right temporal (RTLE); 15 had frontal lobe epilepsy (FLE); and 9 had parietal/occipital lobe epilepsy (POLE). There were 20 healthy controls...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28109990/ictal-eeg-fmri-study-of-vertiginous-seizures
#7
Alessandra Morano, Marco Carnì, Sara Casciato, Anna Elisabetta Vaudano, Jinane Fattouch, Martina Fanella, Mariarita Albini, Luca Manfredi Basili, Giulia Lucignani, Marco Scapeccia, Regina Tomassi, Elisabetta Di Castro, Claudio Colonnese, Anna Teresa Giallonardo, Carlo Di Bonaventura
Vertigo and dizziness are extremely common complaints, related to either peripheral or central nervous system disorders. Among the latter, epilepsy has to be taken into consideration: indeed, vertigo may be part of the initial aura of a focal epileptic seizure in association with other signs/symptoms, or represent the only ictal manifestation, a rare phenomenon known as "vertiginous" or "vestibular" seizure. These ictal symptoms are usually related to a discharge arising from/involving temporal or parietal areas, which are supposed to be a crucial component of the so-called "vestibular cortex"...
January 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28098941/posterior-cortex-epilepsy-surgery-in-childhood-and-adolescence-predictors-of-long-term-seizure-outcome
#8
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/28060294/manipulation-of-epileptiform-electrocorticograms-ecogs-and-sleep-in-rats-and-mice-by-acupuncture
#9
Pei-Lu Yi, Shuo-Bin Jou, Yi-Jou Wu, Fang-Chia Chang
Ancient Chinese literature has documented that acupuncture possesses efficient therapeutic effects on epilepsy and insomnia. There is, however, little research to reveal the possible mechanisms behind these effects. To investigate the effect of acupuncture on epilepsy and sleep, several issues need to be addressed. The first is to identify the acupoints, which correspond between humans, rats, and mice. Furthermore, the depth of insertion of the acupuncture needle, the degree of needle twist in manual needle acupuncture, and the stimulation parameters for electroacupuncture (EA) need to be determined...
December 22, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28054130/posterior-reversible-encephalopathy-syndrome
#10
REVIEW
Marlene Fischer, Erich Schmutzhard
The posterior reversible encephalopathy syndrome (PRES) is a neurological disorder of (sub)acute onset characterized by varied neurological symptoms, which may include headache, impaired visual acuity or visual field deficits, disorders of consciousness, confusion, seizures, and focal neurological deficits. In a majority of patients the clinical presentation includes elevated arterial blood pressure up to hypertensive emergencies. Neuroimaging, in particular magnetic resonance imaging, frequently shows a distinctive parieto-occipital pattern with a symmetric distribution of changes reflecting vasogenic edema...
January 4, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28043066/thalamic-hypoperfusion-and-disrupted-cerebral-blood-flow-networks-in-idiopathic-generalized-epilepsy-arterial-spin-labeling-and-graph-theoretical-analysis
#11
Daichi Sone, Masako Watanabe, Miho Ota, Yukio Kimura, Atsuhiko Sugiyama, Tomoko Maekawa, Mariko Okura, Mikako Enokizono, Etsuko Imabayashi, Noriko Sato, Hiroshi Matsuda
PURPOSE: The aim of this study was to investigate interictal cerebral blood flow (CBF) distributions and graph theoretical networks in idiopathic generalized epilepsy (IGE) using arterial spin labeling (ASL) imaging and anatomical covariance methods of graph theoretical analysis. MATERIAL AND METHODS: We recruited 19 patients with IGE and 19 age-/gender-matched healthy controls. Their CBF images were obtained by pseudo-continuous ASL imaging and compared using statistical parametric mapping 8 software (SPM8) and Graph Analysis Toolbox (GAT)...
December 14, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/28017759/the-monro-kellie-doctrine-in-action-posterior-reversible-leukoencephalopathy-syndrome-pres-due-to-intracranial-hypotension-from-lumbo-peritoneal-shunt-placement
#12
Ioannis Karakis, Audrey H Nuccio, Jordan P Amadio, Arthur J Fountain
BACKGROUND: Posterior reversible leukoencephalopathy syndrome (PRES) is linked to various etiologies, foremost systemic hypertension. Its association with intracranial hypotension (IH), a potential sequela of various neurosurgical procedures, is under-recognized. We report a case of lumbo-peritoneal shunt induced IH resulting in PRES with the goal to increase awareness, and elaborate on the potential biological mechanism, based on the Monro-Kellie hypothesis. CASE DESCRIPTION: A 26-year-old woman with acquired immunodeficiency syndrome and epilepsy was admitted for recurrent cryptococcal meningitis and breakthrough seizures...
December 22, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/28009132/tract-specific-atrophy-in-focal-epilepsy-disease-genetics-or-seizures
#13
David N Vaughan, David Raffelt, Evan Curwood, Meng-Han Tsai, Jacques-Donald Tournier, Alan Connelly, Graeme D Jackson
OBJECTIVE: To investigate whether genetics, underlying pathology or repeated seizures contribute to atrophy in specific white matter tracts. METHODS: Medically-refractory unilateral temporal lobe epilepsy with hippocampal sclerosis (HS-TLE, n=26) was studied as an archetype of focal epilepsy, using fixel-based analysis of diffusion-weighted imaging. A genetic effect was assessed in first-degree relatives of HS-TLE who did not have epilepsy themselves (HS-1°Rel; n=26)...
December 23, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27928411/visual-impairment-due-to-lissencephaly
#14
V E Marqués-Fernández, H Sánchez-Tocino, M T Escudero-Caro, R Cancho-Candela, M García-Zamora
Lissencephaly is a rare disorder due to abnormal neural migration, causing neurological impairment and clinically characterised by mental retardation and epilepsy. Any disturbance of the visual pathway can cause loss of vision. The authors describe a case of a 6-year-old boy referred to the ophthalmologist presenting poor bilateral vision. This child had no other known medical conditions, and neurological examination was completely normal. Only when a magnetic resonance imaging was made that a lissencephaly-pachygyria with band heterotopia mostly occipital was noted...
October 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27923187/sleep-eeg-patterns-in-infants-with-congenital-zika-virus-syndrome
#15
Maria Durce Costa Gomes Carvalho, Demócrito de Barros Miranda-Filho, Vanessa van der Linden, Paula Fabiana Sobral, Regina Coeli Ferreira Ramos, Maria Ângela Wanderley Rocha, Marli Tenório Cordeiro, Sarah Pinheiro de Alencar, Magda Lahorgue Nunes
OBJECTIVES: To describe sleep EEG patterns of neonates, and infants with microcephaly due to congenital Zika virus (ZikV) syndrome. METHODS: A descriptive case series of EEGs performed in a cohort of neonates with microcephaly monitored from October 2015 to February 2016 at a University Hospital in Northeast Brazil. Infants were investigated following an established protocol that includes EEG, neuroimaging studies, PCR and specific antibodies for ZikV detection...
January 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/27899123/a-functional-magnetic-resonance-imaging-investigation-of-visual-hallucinations-in-the-human-striate-cortex
#16
Hina Abid, Fayyaz Ahmad, Soo Y Lee, Hyun W Park, Dongmi Im, Iftikhar Ahmad, Safee U Chaudhary
PURPOSE: Human beings frequently experience fear, phobia, migraine and hallucinations, however, the cerebral mechanisms underpinning these conditions remain poorly understood. Towards this goal, in this work, we aim to correlate the human ocular perceptions with visual hallucinations, and map them to their cerebral origins. METHODS: An fMRI study was performed to examine the visual cortical areas including the striate, parastriate and peristriate cortex in the occipital lobe of the human brain...
November 29, 2016: Behavioral and Brain Functions: BBF
https://www.readbyqxmd.com/read/27895559/reorganization-of-visual-callosal-connections-following-alterations-of-retinal-input-and-brain-damage
#17
REVIEW
Laura Restani, Matteo Caleo
Vision is a very important sensory modality in humans. Visual disorders are numerous and arising from diverse and complex causes. Deficits in visual function are highly disabling from a social point of view and in addition cause a considerable economic burden. For all these reasons there is an intense effort by the scientific community to gather knowledge on visual deficit mechanisms and to find possible new strategies for recovery and treatment. In this review, we focus on an important and sometimes neglected player of the visual function, the corpus callosum (CC)...
2016: Frontiers in Systems Neuroscience
https://www.readbyqxmd.com/read/27889818/somatosensory-reflex-seizures-in-a-child-with-epilepsy-related-to-novel-scn1a-mutation
#18
Pinar Arican, Nihal Olgac Dundar, Dilek Cavusoglu, Taha Resid Ozdemır, Pinar Gencpinar
INTRODUCTION: Mutations in SCN1A have been reported in patients with different types of epilepsy, including generalized epilepsy with febrile seizures plus, severe myoclonic epilepsy in infancy, malignant migrating partial seizures in infancy, and other infantile epileptic encephalopathies. CASE REPORT: We report a case of a 10-month-old girl presented with reflex epileptic seizures provoked by somatosensory stimuli with a novel de novo mutation of SCN1A gene. She was observed to have seizures with eye deviation, unresponsiveness provoked by somatosensory stimuli of the face...
November 26, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27888083/clinical-and-imaging-evaluation-of-the-transuncus-selective-amygdalo-hippocampectomy
#19
Enrico Ghizoni, Roger Matias, Stefan Lieber, Brunno Machado de Campos, Clarissa Lin Yasuda, João Paulo Sant Ana Santos de Souza, Pamela Castro Pereira, Augusto Amato, Andrei Fernandes Joaquim, Tátila Martins Lopes, Helder Tedeschi, Fernando Cendes
BACKGROUND: Various reports described the transuncus approach (TU) as a selective route to the amygdala and hippocampus, but this approach has not yet being submitted to a solid post operative imaging analysis. The objective of this study was to evaluate the anatomy, surgical technique, postoperative imaging analysis and outcome in a series of temporal lobe epilepsy (TLE) patients who underwent to selective amigdalo-hippocampectomy (SHA) via TU. METHODS: This is a prospective study of 25 consecutive patients who underwent to selective amigdalo-hippocampectomy through TU...
November 22, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27878136/phenotypic-convergence-of-menkes-and-wilson-disease
#20
Boglarka Bansagi, David Lewis-Smith, Endre Pal, Jennifer Duff, Helen Griffin, Angela Pyle, Juliane S Müller, Gabor Rudas, Zsuzsanna Aranyi, Hanns Lochmüller, Patrick F Chinnery, Rita Horvath
Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration caused by mutations in the copper transporter ATP7A. Other ATP7A mutations have been linked to juvenile occipital horn syndrome and adult-onset hereditary motor neuropathy.(1,2) About 5%-10% of the patients present with "atypical Menkes disease" characterized by longer survival, cerebellar ataxia, and developmental delay.(2) The intracellular copper transport is regulated by 2 P type ATPase copper transporters ATP7A and ATP7B...
December 2016: Neurology. Genetics
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