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Intractable epilepsy

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https://www.readbyqxmd.com/read/29444267/safety-of-laser-interstitial-thermal-therapy-in-patients-with-pacemakers
#1
Sanjeet S Grewal, Krzysztof R Gorny, Christopher P Favazza, Robert E Watson, Timothy J Kaufmann, Jamie J Van Gompel
BACKGROUND AND IMPORTANCE: Laser interstitial thermal therapy (LiTT) has increasingly been used as a treatment option for medically refractory epilepsy, tumors, and radiation necrosis. The use of LiTT requires intraoperative magnetic resonance (MR) thermography. This can become an issue in patients with other implanted therapeutic devices such as pacemakers and vagal nerve stimulators due to concerns regarding increases in the specific absorption rate (SAR). This is a technical case report demonstrating a successfully and safely performed LiTT in a 1...
February 10, 2018: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29439846/diagnostic-challenge-for-the-rare-lysosomal-storage-disease-late-infantile-gm1-gangliosidosis
#2
Jin Sook Lee, Jong-Moon Choi, Moses Lee, Soo Yeon Kim, Sangmoon Lee, Byung Chan Lim, Jung-Eun Cheon, In-One Kim, Ki Joong Kim, Murim Choi, Moon-Woo Seong, Jong-Hee Chae
BACKGROUND: GM1 gangliosidosis is a rare lysosomal storage disorder caused by GLB1 mutations. Because of its extreme rarity and symptoms that overlap with other neurodegenerative diseases, its diagnosis is sometimes challenging, especially in the late infantile form with less severe phenotype. We aim to expand the clinical and genetic spectrum of late infantile GM1 gangliosidosis. METHODS: We confirmed a diagnosis of GM1 gangliosidosis based on GLB1 mutations and/or the deficiency of β-galactosidase activity...
February 10, 2018: Brain & Development
https://www.readbyqxmd.com/read/29438820/intraoperative-hippocampal-electrocorticography-frequently-captures-electrographic-seizures-and-correlates-with-hippocampal-pathology
#3
Aashit K Shah, Darren Fuerst, Sandeep Mittal
OBJECTIVE: Relationship between electrographic seizures on hippocampal electrocorticography (IH-ECoG) and presence/type of hippocampal pathology remains unclear. METHODS: IH-ECoG was recorded for 10-20 min from the ventricular surface of the hippocampus following removal of the temporal neocortex in 40 consecutive patients. Correlation between intraoperative hippocampal seizures and preoperative MRI, hippocampal histopathology, and EEG from invasive monitoring was determined...
February 2, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29434537/how-can-a-ketogenic-diet-improve-motor-function
#4
REVIEW
Charlotte Veyrat-Durebex, Pascal Reynier, Vincent Procaccio, Rudolf Hergesheimer, Philippe Corcia, Christian R Andres, Hélène Blasco
A ketogenic diet (KD) is a normocaloric diet composed by high fat (80-90%), low carbohydrate, and low protein consumption that induces fasting-like effects. KD increases ketone body (KBs) production and its concentration in the blood, providing the brain an alternative energy supply that enhances oxidative mitochondrial metabolism. In addition to its profound impact on neuro-metabolism and bioenergetics, the neuroprotective effect of specific polyunsaturated fatty acids and KBs involves pleiotropic mechanisms, such as the modulation of neuronal membrane excitability, inflammation, or reactive oxygen species production...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29426321/systemic-autoinflammation-with-intractable-epilepsy-managed-with-interleukin-1-blockade
#5
Allen D DeSena, Thuy Do, Grant S Schulert
BACKGROUND: Autoinflammatory disorders are distinguished by seemingly random episodes of systemic hyperinflammation, driven in particular by IL-1. Recent pre-clinical work has shown a key role for IL-1 in epilepsy in animal models, and therapies for autoinflammation including IL-1 blockade are proposed for refractory epilepsy. CASE PRESENTATION: Here, we report an adolescent female with signs of persistent systemic inflammation and epilepsy unresponsive to multiple anti-epileptic drugs (AED)...
February 9, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29425986/is-edema-a-matter-of-concern-after-laser-ablation-of-epileptogenic-focus
#6
Vivek Tandon, Michael Lang, Poodipedi Sarat Chandra, Ashwini Sharan, Ajay Garg, Manjari Tripathi
BACKGROUND: A stereotactically placed laser fiber can deliver thermal energy to an epileptogenic focus in brain. This procedure is done under intraoperative (thermography) magnetic resonance imaging (MRI) guidance. Thermoablation can lead to edema in surrounding area and can cause secondary insult. In this case report of three cases, we have quantified the edema produced after laser ablation, with sequential MRI in immediate post-operative period. CASE DESCRIPTION(S): Three patients of intractable epilepsy underwent proper neurological and neuro-radiological workup to localize the site of epileptogenic foci...
February 6, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29422019/identification-of-two-novel-null-variants-in-cln8-by-targeted-next-generation-sequencing-first-report-of-a-chinese-patient-with-neuronal-ceroid-lipofuscinosis-due-to-cln8-variants
#7
Zhijie Gao, Hua Xie, Qian Jiang, Nan Wu, Xiaoli Chen, Qian Chen
BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) are one of the most frequent childhood-onset neurodegenerative pathologies characterized by seizures, progressive cognitive decline, motor impairment and loss of vision. For the past two decades, more than 430 variants in 13 candidate genes have been identified in the affected patients. Most of the variants were almost exclusively reported in Western patients, and very little clinical and genetic information was available for Chinese patients...
February 8, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29420859/amygdala-stimulation-induced-apnea-is-attention-and-nasal-breathing-dependent
#8
William P Nobis, Stephen Schuele, Jessica W Templer, Guangyu Zhou, Gregory Lane, Joshua M Rosenow, Christina Zelano
OBJECTIVE: Evidence suggests disordered breathing is critically involved in Sudden unexplained death in epilepsy (SUDEP). To that end, evaluating structures that are activated by seizures and can activate brain regions that produce cardiorespiratory changes can further our understanding of the pathophysiology of SUDEP. Prior preclinical studies have shown that electrical stimulation of the human amygdala induces apnea, suggesting a role for the amygdala in controlling respiration. In this study, we aimed to both confirm these findings in a larger group of patients with intractable temporal lobe epilepsy (TLE) and also further explore the anatomical and cognitive properties of this effect...
February 8, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29414546/unique-and-shared-areas-of-cognitive-function-in-children-with-intractable-frontal-or-temporal-lobe-epilepsy
#9
Nicole Law, Elysa Widjaja, Mary Lou Smith
OBJECTIVE: Previous findings have been mixed in terms of identifying a distinct pattern of neuropsychological deficits in children with frontal lobe epilepsy (FLE) and in those with temporal lobe epilepsy (TLE). The current study investigated the neuropsychological similarities and differences across these two pediatric medically intractable localization-related epilepsies. METHOD: Thirty-eight children with FLE, 20 children with TLE, and 40 healthy children (HC) participated in this study...
January 25, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29414137/the-effect-of-vagus-nerve-stimulator-in-controlling-status-epilepticus-in-children
#10
Satyanarayana Gedela, Bilal Sitwat, William P Welch, Robert T Krafty, Yoshimi Sogawa
PURPOSE: This study explores the effect of Vagus Nerve Stimulator (VNS) on Status Epilepticus (SE) in children with medically intractable epilepsy. METHODS: Retrospective review was conducted in children with a history of at least two SE, who had VNS implantation and had at least one year follow up after the procedure. RESULTS: Sixteen patients met inclusion/exclusion criteria. The median age of seizure onset and surgery was 1.3 years and 9...
January 23, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29393811/treatment-of-medically-refractory-seizures-with-responsive-neurostimulation-2-pediatric-cases
#11
Malgosia A Kokoszka, Fedor Panov, Maite La Vega-Talbott, Patricia E McGoldrick, Steven M Wolf, Saadi Ghatan
The responsive neurostimulation (RNS) system, an adjunctive treatment for pharmacoresistant partial-onset seizures with 1 or 2 foci, has been available to patients aged 18 years or older since the device's FDA approval in 2013. Herein, the authors describe their off-label application of this technology in 2 pediatric patients and the consequent therapeutic benefit without surgical complications or treatment side effects. A 14-year-old nonambulatory, nonverbal male with severe developmental delay was considered for RNS therapy for medically and surgically refractory epilepsy with bilateral seizure onsets in the setting of a normal radiological examination and a known neuropathological diagnosis of type I cortical dysplasia...
February 2, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29393419/hmgb1-mediates-microglia-activation-via-the-tlr4-nf-%C3%AE%C2%BAb-pathway-in-coriaria-lactone-induced-epilepsy
#12
Yunbo Shi, Lingli Zhang, Junfang Teng, Wang Miao
Epilepsy is a chronic and recurrent disease of the central nervous system, with a complex pathology. Recent studies have demonstrated that the activation of glial cells serve an important role in the development of epilepsy. The objective of the present study was to investigate the role of high‑mobility group box‑1 (HMGB1) in mediating the activation of glial cells through the toll‑like receptor 4 (TLR4)/nuclear factor (NF)‑κB signaling pathway in seizure, and the underlying mechanism. The brain tissue of post‑surgery patients with intractable epilepsy after resection and the normal control brain tissue of patients with craniocerebral trauma induced intracranial hypertension were collected...
January 25, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29392713/insulo-opercular-cortex-generates-oroalimentary-automatisms-in-temporal-seizures
#13
Jerome Aupy, Ika Noviawaty, Balu Krishnan, Piradee Suwankpakdee, Juan Bulacio, Jorge Gonzalez-Martinez, Imad Najm, Patrick Chauvel
OBJECTIVE: Oroalimentary automatisms (OAAs) resembling normal alimentary behavior are stereotyped complex movements that may occur during epileptic seizures. They are considered common clinical signs in temporal lobe seizures, but their anatomofunctional mechanisms are not established. We took the opportunity of presurgical intracerebral recordings to study the relations between the occurrence of OAAs and temporal/spatial features of ictal activities. METHODS: We retrospectively reviewed patients with medically intractable medial temporal lobe epilepsy who underwent stereoelectroencephalography (SEEG) at Cleveland Clinic between 2009 and 2016...
February 2, 2018: Epilepsia
https://www.readbyqxmd.com/read/29390993/efficient-strategy-for-the-molecular-diagnosis-of-intractable-early-onset-epilepsy-using-targeted-gene-sequencing
#14
John Hoon Rim, Se Hee Kim, In Sik Hwang, Soon Sung Kwon, Jieun Kim, Hyun Woo Kim, Min Jung Cho, Ara Ko, Song Ee Youn, Jihun Kim, Young Mock Lee, Hee Jung Chung, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Kang
BACKGROUND: We intended to evaluate diagnostic utility of a targeted gene sequencing by using next generation sequencing (NGS) panel in patients with intractable early-onset epilepsy (EOE) and find the efficient analytical step for increasing the diagnosis rate. METHODS: We assessed 74 patients with EOE whose seizures started before 3 years of age using a customized NGS panel that included 172 genes. Single nucleotide variants (SNVs) and exonic and chromosomal copy number variations (CNVs) were intensively examined with our customized pipeline and crosschecked with commercial or pre-built software...
February 1, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29386277/trends-in-intracranial-monitoring-for-pediatric-medically-intractable-epilepsy-2000-2012
#15
Tony R Wang, Russell C Bailey, Howard P Goodkin, Kelly B Mahaney
OBJECTIVE: To retrospectively examine nationwide trends in intracranial monitoring (ICM) for pediatric medically intractable epilepsy (MIE) from 2000 to 2012. METHODS: The Healthcare Cost and Utilization Project Kids' Inpatient Database was analyzed to identify admissions with ICD-9-CM codes corresponding to MIE and ICM from 2000 to 2012, inclusive. Associations between independent variables and outcomes were tested using χ2 test or Fisher exact test. A multivariate logistic regression analysis of variables associated with ICM was completed using stepwise selection...
January 31, 2018: Neurology
https://www.readbyqxmd.com/read/29382091/epilepsy-a-call-for-help
#16
Venkatraman Sadanand
Epilepsy is a considerable individual and social economic burden. In properly selected patients, epilepsy surgery can provide significant relief from disease, including remission. However, the surgical treatment of epilepsy lags in terms of knowledge and technology. The problem arises due to its slow adaptation and dissemination. This article explores this issue of a wide treatment gap and its causes. It develops a framework for a rational decision-making process that is appropriate for extant circumstances and will result in the speedy delivery of surgical care for suitable patients with medically intractable epilepsy...
January 28, 2018: Brain Sciences
https://www.readbyqxmd.com/read/29379967/development-of-neuromyelitis-optica-spectrum-disorder-and-spinal-arachnoid-cysts-in-a-patient-with-intractable-epilepsy
#17
Yin Liu, Michael Olek
Neuromyelitis optica is an inflammatory, demyelinating disease of the central nervous system that is characterized by severe relapsing attacks of optic neuritis and transverse myelitis. The current case describes a 29-year-old man with intractable epilepsy and diplegic spastic cerebral palsy who was given the diagnosis of neuromyelitis optica spectrum disorder after presenting with weakness, incontinence, and decreased visual acuity. His symptoms recurred 21 months after initial presentation. Magnetic resonance imaging of his spine revealed arachnoid cysts with regional mass effects...
February 1, 2018: Journal of the American Osteopathic Association
https://www.readbyqxmd.com/read/29368115/efficacy-of-low-glycemic-index-treatment-in-epileptic-patients-a-systematic-review
#18
REVIEW
Shahabeddin Rezaei, Sara Harsini, Mona Kavoosi, Reza Shervin Badv, Maryam Mahmoudi
Low glycemic index treatment (LGIT) is one of the new kinds of ketogenic diet (KD), designed to simplify the implementation of the KD. To date, several studies have attempted to determine the efficacy of LGIT in patients with epilepsy; however, their results are debatable. This study aims to retrieve all the LGIT studies to shed light on LGIT efficacy in epileptic patients. Electronic literature databases including MEDLINE/PubMed, Web of Science, Scopus, EMBASE were searched in July 2017. Interventional or observational studies exploring the efficacy of LGIT were included in the study...
January 24, 2018: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29365063/de-novo-mutations-in-grin1-cause-extensive-bilateral-polymicrogyria
#19
Andrew E Fry, Katherine A Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A N Thompson, Lilach Shemer-Meiri, Thomas D Cushion, Hood Mugalaasi, David Sims, Neil Stoodley, Seo-Kyung Chung, Mark I Rees, Chirag V Patel, Louise A Brueton, Valérie Layet, Fabienne Giuliano, Michael P Kerr, Ehud Banne, Vardiella Meiner, Tally Lerman-Sagie, Katherine L Helbig, Laura H Kofman, Kristin M Knight, Wenjuan Chen, Varun Kannan, Chun Hu, Hirofumi Kusumoto, Jin Zhang, Sharon A Swanger, Gil H Shaulsky, Ghayda M Mirzaa, Alison M Muir, Heather C Mefford, William B Dobyns, Amanda B Mackenzie, Jonathan G L Mullins, Johannes R Lemke, Nadia Bahi-Buisson, Stephen F Traynelis, Heledd F Iago, Daniela T Pilz
Polymicrogyria is a malformation of cortical development. The aetiology of polymicrogyria remains poorly understood. Using whole-exome sequencing we found de novo heterozygous missense GRIN1 mutations in 2 of 57 parent-offspring trios with polymicrogyria. We found nine further de novo missense GRIN1 mutations in additional cortical malformation patients. Shared features in the patients were extensive bilateral polymicrogyria associated with severe developmental delay, postnatal microcephaly, cortical visual impairment and intractable epilepsy...
January 22, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29357461/phase-amplitude-coupling-within-the-anterior-thalamic-nuclei-during-seizures
#20
George M Ibrahim, Simeon Wong, Benjamin R Morgan, Nir Lipsman, Aria Fallah, Alexander G Weil, Vibhor Krishna, Richard A Wennberg, Andres A Lozano
Cross-frequency phase-amplitude coupling (cfPAC) subserves an integral role in the hierarchical organization of inter-regional neuronal communication, and is also expressed by epileptogenic cortex during seizures. Here, we sought to characterize patterns of cfPAC expression in the anterior thalamic nuclei during seizures by studying extra-operative recordings in patients implanted with deep brain stimulation electrodes for intractable epilepsy. Nine seizures from 2 patients were analyzed in the peri-ictal period...
December 27, 2017: Journal of Neurophysiology
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