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https://www.readbyqxmd.com/read/29777883/atypical-presentation-of-giant-aneurysm-in-a-pediatric-patient-with-duane-syndrome
#1
Chao-Hung Kuo, Lynn B McGrath, Joseph A Carnevale, Neena I Marupudi, Jeffery G Ojemann, Richard G Ellenbogen, Anthony C Wang
BACKGROUND: Duane syndrome is a congenital eye movement disorder characterized by congenital malformation of the abducens nucleus. Thrombogenic conditions during development may lead to vascular anomalies in Duane syndrome, however, the presence of a giant aneurysm in this patient population is a rarely documented phenomenon. CASE DESCRIPTION: We reported a case of a large cerebral aneurysm in a pediatric patient with Duane syndrome, and performed a review of the literatures to identify other potential cases and associations...
May 16, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29775765/disconnection-surgery-for-intractable-epilepsy-with-a-structural-abnormality-in-the-medial-posterior-cortex
#2
Takeshi Matsuo, Kensuke Kawai, Kenji Ibayashi, Ichiro Shirouzu, Miki Sato
BACKGROUND: The lesionectomy is a general surgical procedure for treating focal epilepsy resulting from a structural abnormality, but some patients can not achieve favorable outcome, especially patients whose symptomatogenic zone is located in remote regions. Herein we propose the surgical disconnection of the seizure propagation pathway, which consists of short and long associating fibers linking the epileptogenic zone to the remote symptomatogenic zone, as an effective method of achieving favorable seizure outcomes in patients with posterior cortex epilepsy...
May 15, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29775133/preservation-of-electrophysiological-functional-connectivity-after-partial-corpus-callosotomy-case-report
#3
Kaitlyn Casimo, Fabio Grassia, Sandra L Poliachik, Edward Novotny, Andrew Poliakov, Jeffrey G Ojemann
Prior studies of functional connectivity following callosotomy have disagreed in the observed effects on interhemispheric functional connectivity. These connectivity studies, in multiple electrophysiological methods and functional MRI, have found conflicting reductions in connectivity or patterns resembling typical individuals. The authors examined a case of partial anterior corpus callosum connection, where pairs of bilateral electrocorticographic electrodes had been placed over homologous regions in the left and right hemispheres...
May 18, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29768433/the-long-term-outcomes-of-epilepsy-surgery
#4
Midhun Mohan, Simon Keller, Andrew Nicolson, Shubhabrata Biswas, David Smith, Jibril Osman Farah, Paul Eldridge, Udo Wieshmann
OBJECTIVE: Despite modern anti-epileptic drug treatment, approximately 30% of epilepsies remain medically refractory and for these patients, epilepsy surgery may be a treatment option. There have been numerous studies demonstrating good outcome of epilepsy surgery in the short to median term however, there are a limited number of studies looking at the long-term outcomes. The aim of this study was to ascertain the long-term outcome of resective epilepsy surgery in a large neurosurgery hospital in the U...
2018: PloS One
https://www.readbyqxmd.com/read/29750337/lamotrigine-resistant-corneal-kindled-mice-a-model-of-pharmacoresistant-partial-epilepsy-for-moderate-throughput-drug-discovery
#5
Zachery Koneval, Kevin M Knox, H Steve White, Melissa Barker-Haliski
OBJECTIVE: Despite numerous treatments for epilepsy, over 30% of patients remain resistant to available antiseizure drugs (ASDs). Thus, there is a strong need for more effective ASDs for these individuals. Early ASD discovery has historically relied on acute in vivo seizure models (maximal electroshock, subcutaneous pentylenetetrazol, 6 Hz), which lack the pathophysiology that defines chronic epilepsy. Etiologically relevant rodent models of pharmacoresistant epilepsy exist (eg, phenytoin (PHT)- and lamotrigine (LTG)-resistant amygdala-kindled rat and focal kainic acid mouse), but these models are resource- and labor-intensive and thus unsuitable for frontline ASD discovery...
May 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29746395/a-liquid-chromatography-mass-spectrometry-assay-for-determination-of-perampanel-and-concomitant-antiepileptic-drugs-in-the-plasma-of-patients-with-epilepsy-compared-with-a-fluorescent-hplc-assay
#6
Ugo de Grazia, Annachiara D'Urso, Federica Ranzato, Valentina De Riva, Giorgia Contarato, Giuseppe Billo, Francesco Perini, Elisabetta Galloni
BACKGROUND: Perampanel is a novel non-competitive selective antagonist at the postsynaptic ionotropic alpha-amino-3-hydroxy-5-methyl-4-isoxazoleproprionic acid (AMPA) glutamate receptor, approved as an adjunctive agent for the treatment of partial-onset seizure with or without secondary generalization and for primary generalized tonic-clonic seizure in patients with epilepsy who are at least 12 years of age. Limited information is available about the clinical utility of therapeutic drug monitoring of perampanel and therapeutic ranges are so far not established...
May 9, 2018: Therapeutic Drug Monitoring
https://www.readbyqxmd.com/read/29745347/febrile-infection-related-epilepsy-syndrome-fires-an-overview-of-treatment-and-recent-patents
#7
Kam Lun E Lun Hon, Alexander K C Leung, Alcy R Torres
BACKGROUND: New-onset refractory status epilepticus (NORSE) refers to a clinical presentation in a patient without active epilepsy or other existing relevant neurological disorder, with new onset of refractory status epilepticus in the absence of a clear acute or active structural, metabolic, or toxic cause. Febrile infection-related epilepsy syndrome (FIRES) is a subset of NORSE that requires a febrile infection between 24 hours and 2 weeks prior to the onset of refractory status epilepticus, with or without fever at the onset of status epilepticus, and with no restriction to the age of the patient...
May 8, 2018: Recent Patents on Inflammation & Allergy Drug Discovery
https://www.readbyqxmd.com/read/29740975/similarities-between-the-responses-to-ant-dbs-and-prior-vns-in-refractory-epilepsy
#8
Toni Kulju, Joonas Haapasalo, Kai Lehtimäki, Sirpa Rainesalo, Jukka Peltola
OBJECTIVES: Neurostimulation has offered new treatment options in refractory epilepsy, first with vagus nerve stimulation (VNS) and more recently with deep brain stimulation (DBS). There is a lack of previous detailed data assessing the relationship between VNS and ANT-DBS. The aim of this study was to investigate the potential correlation between therapeutic responses to VNS and ANT-DBS. MATERIALS AND METHODS: A total of 11 patients with previous VNS therapy underwent ANT-DBS implantation...
May 8, 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29736618/leptomeningeal-form-of-immunoglobulin-g4-related-hypertrophic-meningitis-with-perivascular-spread-a-case-report-and-review-of-the-literature
#9
Jasmina Boban, Selin Ardalı, Majda M Thurnher
PURPOSE: Immunoglobulin G4 (IgG4)-related disease represents a spectrum of fibro-inflammatory disorders that affects various organ systems, including the central nervous system. METHODS: Here we present the case of lgG4-related hypertrophic meningitis with exclusively leptomeningeal involvement and spread via perivascular spaces. RESULTS: A 58-year-old male patient presented with complex partial seizures. Initial computed tomography examination showed left frontal sulcal hyperdensity...
May 7, 2018: Neuroradiology
https://www.readbyqxmd.com/read/29733524/safety-and-pharmacokinetics-of-veliparib-extended-release-in-patients-with-advanced-solid-tumors-a-phase-i-study
#10
Theresa L Werner, Jasgit Sachdev, Elizabeth M Swisher, Martin Gutierrez, Muaiad Kittaneh, Mark N Stein, Hao Xiong, Martin Dunbar, Danielle Sullivan, Philip Komarnitsky, Mark McKee, Antoinette R Tan
The poly(ADP-ribose) polymerase-1/2 inhibitor veliparib is active against tumors deficient in homologous DNA damage repair. The pharmacokinetics and safety of veliparib extended-release (ER) were evaluated in patients with advanced solid tumors. This phase I study assessed veliparib-ER up to 800 mg once daily or 600 mg twice daily. Dose-limiting toxicities (DLTs), recommended phase II dose (RP2D), and maximum tolerated dose (MTD) were assessed in cycle 1 and safety/tolerability during continuous administration (28-day cycles)...
May 7, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29726066/partial-loss-of-function-of-sodium-channel-scn8a-in-familial-isolated-myoclonus
#11
Jacy L Wagnon, Niccolò E Mencacci, Bryan S Barker, Eric R Wenger, Kailash P Bhatia, Bettina Balint, Miryam Carecchio, Nicholas W Wood, Manoj K Patel, Miriam H Meisler
Variants in the neuronal sodium channel gene SCN8A have been implicated in several neurological disorders. Early infantile epileptic encephalopathy type 13 results from de novo gain-of-function mutations that alter the biophysical properties of the channel. Complete loss-of-function variants of SCN8A have been identified in cases of isolated intellectual disability. We now report a novel heterozygous SCN8A variant, p.Pro1719Arg in a small pedigree with five family members affected with autosomal dominant upper limb isolated myoclonus without seizures or cognitive impairment...
May 3, 2018: Human Mutation
https://www.readbyqxmd.com/read/29722747/is-adjunctive-progesterone-effective-in-reducing-seizure-frequency-in-patients-with-intractable-catamenial-epilepsy-a-critically-appraised-topic
#12
Cristina Valencia-Sanchez, Amy Z Crepeau, Matthew T Hoerth, Kristina A Butler, Diana Almader-Douglas, Dean M Wingerchuk, Cumara B O'Carroll
BACKGROUND: Catamenial epilepsy refers to cyclic seizure exacerbation in relation to the menstrual cycle. Three distinct patterns have been described: C1-perimenstrual, C2-periovulatory, and C3-inadequate luteal. There is experimental and clinical evidence that gonadal steroid hormones affect neuronal excitability with estrogens being mainly proconvulsant and progesterone anticonvulsant. If reproductive steroids have a role in seizure occurrence, they may also have a role in treatment...
May 2018: Neurologist
https://www.readbyqxmd.com/read/29718889/therapeutic-benefits-of-acth-and-levetiracetam-in-stxbp1-encephalopathy-with-a-de-novo-mutation-a-case-report-and-literature-review
#13
Shunli Liu, Liyuan Wang, Xiao Tang Cai, Hui Zhou, Dan Yu, Zhiling Wang
RATIONALE: The case report aims to discuss the clinical symptoms and treatment of encephalopathy caused by a novel syntaxin- binding protein 1 (STXBP1) genetic mutation. PATIENT CONCERNS: The patient, a girl, was born at 38+4 weeks of gestation. She had frequent spasm attacks accompanied by obvious psychomotor development retardation since the neonatal period. Genetic screening identified a novel STXBP1 genetic mutation. DIAGNOSES: Early-onset epileptic encephalopathy with STXBP1 mutation...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29707758/whipple-disease-presenting-as-cystic-brain-tumor-case-report-and-review-of-the-literature
#14
Mohamed Kilani, Leila Njim, Atef Ben Nsir, Mohamed Nejib Hattab
Although neurological features are commonly encountered in Whipple"s disease (WD), presentation with purely neurological patterns is uncommon. Exclusive confinement to the central nervous system (CNS) is extremely rare. In these cases, the development of an isolated cerebral mass is exceptional. In the present paper, the authors describe a case of a 68-year-old man who presented with partial seizures. The neurological examination was normal. The imaging showed a cystic lesion. This tumor-like lesion was removed by performing frontal craniotomy...
2018: Turkish Neurosurgery
https://www.readbyqxmd.com/read/29705187/seizure-induced-reduction-in-glucose-utilization-promotes-brain-hypometabolism-during-epileptogenesis
#15
Anton Malkov, Anton I Ivanov, Svetlana Buldakova, Tatsiana Waseem, Irina Popova, Misha Zilberter, Yuri Zilberter
Brain glucose hypometabolism is an early symptom of acquired epilepsy, its causative mechanism yet unclear. We suggest that a bidirectional positive feedback linking seizures and hypometabolism (hypometabolism induces seizures while seizures disrupt glucose metabolism) may be a primary cause for acquired epileptogenesis. We reported recently that chronic partial inhibition of brain glycolysis triggers epileptogenesis in healthy rats. Here, by monitoring dynamic electrical and multiple metabolic parameters before and following seizure generation in mouse hippocampal slices using the 4-aminopyridine model of epileptiform activity, we show that in turn seizures are followed by a long-lasting glucose hypometabolism, indicating possible existence of a positive feedback in the mechanism of epileptogenesis...
April 27, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29703767/encephalitis-with-mglur5-antibodies-symptoms-and-antibody-effects
#16
Marianna Spatola, Lidia Sabater, Jesús Planagumà, Eugenia Martínez-Hernandez, Thaís Armangué, Harald Prüss, Takahiro Iizuka, Ruben L Caparó Oblitas, Jean-Christophe Antoine, Richard Li, Nicholas Heaney, Niall Tubridy, Elvira Munteis Olivas, Myrna R Rosenfeld, Francesc Graus, Josep Dalmau
OBJECTIVE: To report the clinical features of 11 patients with metabotropic glutamate receptor 5 (mGluR5) antibody-associated encephalitis, immunoglobulin G (IgG) subclass, and effects of the antibodies on neuronal mGluR5 clusters. METHODS: Clinical information was retrospectively obtained from referring physicians. Antibodies to mGluR5 and IgG subclasses were determined with brain immunohistochemistry and cell-based assays. The effects of the antibodies were examined on rat hippocampal neurons with reported techniques...
April 27, 2018: Neurology
https://www.readbyqxmd.com/read/29700719/influence-of-time-series-normalization-number-of-nodes-connectivity-and-graph-measure-selection-on-seizure-onset-zone-localization-from-intracranial-eeg
#17
Pieter van Mierlo, Octavian Lie, Willeke Staljanssens, Ana Coito, Serge Vulliémoz
We investigated the influence of processing steps in the estimation of multivariate directed functional connectivity during seizures recorded with intracranial EEG (iEEG) on seizure-onset zone (SOZ) localization. We studied the effect of (i) the number of nodes, (ii) time-series normalization, (iii) the choice of multivariate time-varying connectivity measure: Adaptive Directed Transfer Function (ADTF) or Adaptive Partial Directed Coherence (APDC) and (iv) graph theory measure: outdegree or shortest path length...
April 26, 2018: Brain Topography
https://www.readbyqxmd.com/read/29700217/a-novel-combined-approach-using-a-penumbra-catheter-and-balloon-catheter-for-cerebral-venous-sinus-thrombosis
#18
Yoshikazu Matsuda, Yoshihiro Owai, Koji Kakishita, Naoyuki Nakao
Cerebral venous sinus thrombosis is sometimes fatal. We describe a case of sinus thrombosis in a 43-year-old woman presenting with generalized seizure, delirium, and a 2 week history of headache and nausea. The patient underwent mechanical thrombectomy using a novel combined approach, in which a Shouryu HR balloon catheter (Kaneka) was anchored in the right transverse sinus (TS), sigmoid sinus (SS), and superior sagittal sinus (SSS), while a Penumbra 5 MAX ACE (Penumbra) catheter was moved back and forth between the right TS, SS, and SSS...
April 26, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29699515/creutzfeldt-jakob-disease-with-alzheimer-pathology-presenting-with-status-epilepticus-following-repeated-partial-seizures-a-case-report-and-literature-review
#19
Keita Miyake, Takashi Hara, Etsuko Oshima, Kiyohiro Kawada, Hideki Ishizu, Yuko Yamauchi, Katsuya Satoh, Tetsuyuki Kitamoto, Shintaro Takenoshita, Seishi Terada, Norihito Yamada
BACKGROUND: Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disease. Common first symptoms are dementia, cerebellar ataxia, visual disturbance, and psychiatric symptoms. Seizure as the first symptom of CJD is a very rare finding. CASE PRESENTATION: We experienced an elderly woman who presented initially with status epilepticus following repeated partial seizures in the course of Alzheimer disease (AD) dementia. Anti-convulsive therapy had no effect...
April 25, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29699513/case-of-convulsive-seizure-developing-during-electroretinographic-recordings-a-case-report
#20
Yuko Hayashi, Gen Miura, Akiyuki Uzawa, Takayuki Baba, Shuichi Yamamoto
BACKGROUND: To present our findings in a case of convulsive seizures and loss of consciousness that developed during recording electroretinograms (ERG). CASE PRESENTATION: A 34-year-old man had reduced vision in his left eye for about 15 years, and night blindness for about two years. His visual acuity was 20/15 in the right eye and 20/50 in the left eye. The fundus was normal but the sensitivity in the macular region of the left eye was decreased. Optical coherence tomography (OCT) showed partial loss of the interdigitation zone...
April 25, 2018: BMC Neurology
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