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Lisa-Marie Niestroj, Juanjiangmeng Du, Michael Nothnagel, Patrick May, Aarno Palotie, Mark J Daly, Peter Nürnberg, Ingmar Blümcke, Dennis Lal
OBJECTIVE: Increasing availability of surgically resected brain tissue from patients with focal epilepsy and focal cortical dysplasia or low-grade glioneuronal tumors has fostered large-scale genetic examination. However, assessment of pathogenicity of germ line and somatic variants remains difficult. Here, we present a state-of-the-art evaluation of reported genes and variants associated with epileptic brain lesions. METHODS: We critically reevaluated the pathogenicity for all neuropathology-associated variants reported to date in the PubMed and ClinVar databases, including 101 neuropathology-associated missense variants encompassing 11 disease-related genes...
October 20, 2018: Epilepsia
Argyle V Bumanglag, Robert S Sloviter
OBJECTIVE: To determine when spontaneous granule cell epileptiform discharges first occur after hippocampal injury, and to identify the postinjury "latent" period as either a "silent" gestational state of epileptogenesis or a subtle epileptic state in gradual transition to a more obvious epileptic state. METHODS: Nonconvulsive status epilepticus evoked by perforant path stimulation in urethane-sedated rats produced selective and extensive hippocampal injury and a "latent" period that preceded the onset of the first clinically obvious epileptic seizures...
October 19, 2018: Epilepsia
Ruben Kuzniecky, Carmen Baez, Guzmán Aranda, Eveline Teresa Hidalgo, Ameeta Grover, Cordelia Orillac, Yvonne Zelenka, Howard L Weiner
OBJECTIVE: The majority of the 65 million people worldwide with epilepsy live in low- and middle-income countries. Many of these countries have inadequate resources to serve the large patient population affected by epilepsy. Panama is a middle-income country that currently has only 2 facilities that can provide basic epilepsy services and no epilepsy surgery services. To address this need, a group of Panamanian physicians partnered with U.S. epilepsy health care providers to test a hybrid epilepsy surgery program, combining resources and expertise...
October 19, 2018: Epilepsia
Peter J West, Gerald W Saunders, Peggy Billingsley, Misty D Smith, H Steve White, Cameron S Metcalf, Karen S Wilcox
OBJECTIVE: Approximately 30% of patients with epilepsy are refractory to existing antiseizure drugs (ASDs). Given that the properties of the central nervous systems of these patients are likely to be altered due to their epilepsy, tissues from rodents that have undergone epileptogenesis might provide a therapeutically relevant disease substrate for identifying compounds capable of attenuating pharmacoresistant seizures. To facilitate the development of such a model, this study describes the effects of classical glutamate receptor antagonists and 20 ASDs on recurrent epileptiform discharges (REDs) in brain slices derived from the kainate-induced status epilepticus model of temporal lobe epilepsy (KA-rats)...
October 17, 2018: Epilepsia
Siti Nurbaya Yaakub, Gareth J Barker, Sarah J Carr, Eugenio Abela, Michalis Koutroumanidis, Robert D C Elwes, Mark P Richardson
We investigated gray and white matter morphology in patients with mesial temporal lobe epilepsy with hippocampal sclerosis (mTLE+HS) and first-degree asymptomatic relatives of patients with mTLE+HS. Using T1-weighted magnetic resonance imaging (MRI), we sought to replicate previously reported findings of structural surface abnormalities of the anterior temporal lobe in asymptomatic relatives of patients with mTLE+HS in an independent cohort. We performed whole-brain MRI in 19 patients with mTLE+HS, 14 first-degree asymptomatic relatives of mTLE+HS patients, and 32 healthy control participants...
October 15, 2018: Epilepsia
Éric Samarut, Amrutha Swaminathan, Raphaëlle Riché, Meijiang Liao, Rahma Hassan-Abdi, Solène Renault, Marc Allard, Liselotte Dufour, Patrick Cossette, Nadia Soussi-Yanicostas, Pierre Drapeau
OBJECTIVE: In humans, mutations of the γ-aminobutyric acid receptor subunit 1 (GABRA1) cause either mild or severe generalized epilepsy. Although these epilepsy-causing mutations have been shown to disrupt the receptor activity in vitro, their in vivo consequences on brain development and activity are not known. Here, we aim at unraveling the epileptogenesis mechanisms of GABRA1 loss of function. METHODS: We generated a gabra1-/- zebrafish mutant line displaying highly penetrant epileptic seizures...
October 15, 2018: Epilepsia
Katrin Augustin, Sophie Williams, Mark Cunningham, Anita M Devlin, Maximilian Friedrich, Ashan Jayasekera, Mohammed A Hussain, Damian Holliman, Patrick Mitchell, Alistair Jenkins, Philip E Chen, Matthew C Walker, Robin S B Williams
Perampanel is an adjunctive treatment for epilepsy that works through the direct inhibition of AMPA receptors. The same molecular mechanism has recently been shown for a fatty acid, decanoic acid, prescribed in the medium chain triglyceride ketogenic diet for the treatment of patients with drug-resistant epilepsy. Because each compound has been proposed to act through a distinct AMPA receptor binding site, we predicted that perampanel and decanoic acid would act synergistically against AMPA receptors and, consequently, seizures...
October 15, 2018: Epilepsia
Gabriele Ruffolo, Pierangelo Cifelli, Cristina Roseti, Maria Thom, Erwin A van Vliet, Cristina Limatola, Eleonora Aronica, Eleonora Palma
OBJECTIVE: Dravet syndrome is a rare neurodevelopmental disease, characterized by general cognitive impairment and severe refractory seizures. The majority of patients carry the gene mutation SCN1A, leading to a defective sodium channel that contributes to pathogenic brain excitability. A γ-aminobutyric acid (GABAergic) impairment, as in other neurodevelopmental diseases, has been proposed as an additional mechanism, suggesting that seizures could be alleviated by GABAergic therapies...
October 11, 2018: Epilepsia
Meinrad Drexel, Felix Locker, Barbara Kofler, Günther Sperk
There exists solid evidence that endogenous galanin and galanin agonists exert anticonvulsive actions mediated both by galanin 1 receptor (GAL1-R) and galanin 2 receptor (GAL2-R). We have now investigated whether depletion of the recently identified third galanin receptor, GAL3-R, and that of GAL2-R, alters the threshold to the systemically applied γ-aminobutyric acid (GABA) antagonist pentylenetetrazole (PTZ) or to intrahippocampally administered kainic acid (KA). In neither model, GAL3-KO mice differed in their latency to the first seizure, mean seizure duration, total number of seizures, or time spent in seizures compared to wild-type controls...
October 8, 2018: Epilepsia
Camille Garcia-Ramos, Kevin Dabbs, Jack J Lin, Jana E Jones, Carl E Stafstrom, David A Hsu, Mary Elizabeth Meyerand, Vivek Prabhakaran, Bruce P Hermann
OBJECTIVE: Structural and functional magnetic resonance imaging (MRI) studies have consistently documented cortical and subcortical abnormalities in patients with juvenile myoclonic epilepsy (JME). However, little is known about how these structural abnormalities emerge from the time of epilepsy onset and how network interactions between and within cortical and subcortical regions may diverge in youth with JME compared to typically developing children. METHODS: We examined prospective covariations of volumetric differences derived from high-resolution structural MRI during the first 2 years of epilepsy diagnosis in a group of youth with JME (n = 21) compared to healthy controls (n = 22)...
October 3, 2018: Epilepsia
David K Chen, Hina Dave, Kareem Gadelmola, Myrtle Jeroudi, Melissa Fadipe
We aim to demonstrate, in a sufficiently powered and standardized study, that the success rate of inducing psychogenic nonepileptic seizures (PNES) without placebo (saline infusion) is noninferior to induction with placebo. The clinical data of 170 consecutive patients with suspected PNES who underwent induction with placebo from January 21, 2009 to March 31, 2013 were pair-matched with 170 consecutive patients with suspected PNES who underwent the same induction technique but without addition of placebo from April 1, 2013 to February 7, 2018 at the same center...
October 1, 2018: Epilepsia
Chaitali Ghosh, Mohammed Hossain, Saurabh Mishra, Sameena Khan, Jorge Gonzalez-Martinez, Nicola Marchi, Damir Janigro, William Bingaman, Imad Najm
OBJECTIVE: Nuclear receptors and cytochrome P450 (CYP) regulate hepatic metabolism of several drugs. Nuclear receptors are expressed at the neurovascular unit of patients with drug-resistant epilepsy. We studied whether glucocorticoid receptor (GR) silencing or inhibition in human epileptic brain endothelial cells (EPI-ECs) functionally impacts drug bioavailability across an in vitro model of the blood-brain barrier (BBB) by CYP-multidrug transporter (multidrug resistance protein 1, MDR1) mechanisms...
September 28, 2018: Epilepsia
Anne T Berg, Susan R Levy, Francine M Testa
OBJECTIVES: Developmental encephalopathic epilepsies (DEEs) are characterized by refractory seizures, disability, and early death. Opportunities to improve care and outcomes focus on West syndrome/infantile spasms (WS/IS). Lennox-Gastaut syndrome (LGS) is almost as common but receives little attention. We examined initial presentations of DEEs and their evolution over time to identify risk and indicators of developing LGS. METHODS: Data are from the Connecticut Study of Epilepsy, a prospective, longitudinal study of 613 children with newly diagnosed epilepsy recruited in 1993-1997...
September 26, 2018: Epilepsia
Johanna Hynynen, Tytti Pokka, Jonna Komulainen-Ebrahim, Päivi Myllynen, Mikko Kärppä, Laura Pylvänen, Reetta Kälviäinen, Arja Sokka, Aino Jyrkilä, Jaana Lähdetie, Leena Haataja, Anna Mäkitalo, Pauli Ylikotila, Kai Eriksson, Piia Haapala, Hanna Ansakorpi, Reetta Hinttala, Päivi Vieira, Kari Majamaa, Heikki Rantala, Johanna Uusimaa
OBJECTIVE: Previous studies have suggested that heterozygous variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma (POLG1) increase the risk for liver injury for patients on valproate (VPA) therapy. We assessed the prevalence of these common variants and seven other pathogenic mutations in POLG1 and determined the occurrence of VPA-induced hepatotoxicity (VHT) or pancreatic toxicity in a cohort of patients with epilepsy. METHODS: Patients with epilepsy (N = 367) were retrospectively identified from medical record files and screened for mutations in POLG1...
September 26, 2018: Epilepsia
Xiaosa Chi, Rui Li, Xiaoting Hao, Jiani Chen, Weixi Xiong, Hao Xu, Yazhou He, Wenyu Liu, Xin Tong, Le Zhang, Xinyue Jiang, Hui Gao, Dong Zhou
OBJECTIVE: After the failure of the first antiepileptic drug (AED) at doses > 50% defined daily dose (DDD), there are three options for patients with epilepsy: combination therapy, alternative therapy, and increased dosage of the first AED. However, present studies have not provided evidence for which option is best. Therefore, we conducted this retrospective observational cohort study to compare the effects of three treatment schedules. METHODS: Patients diagnosed with newly diagnosed epilepsy at the epilepsy clinic of West China Hospital between August 2006 and February 2016 were evaluated for eligibility for this study...
September 24, 2018: Epilepsia
Allison R McCarter, Paul C Timm, Paul W Shepard, David J Sandness, Thao Luu, Stuart J McCarter, Lucas Dueffert, Max Dresow, John C Feemster, Gregory D Cascino, Elson L So, Gregory A Worrell, Jeffrey R Britton, Akil Sherif, Keerthi Jaliparthy, Anwar A Chahal, Virend K Somers, Erik K St Louis
OBJECTIVE: We aimed to determine the frequency of probable obstructive sleep apnea (pOSA) in refractory epilepsy monitoring unit inpatients and clinical features associated with pOSA, including risk for sudden unexpected death in epilepsy (SUDEP). METHODS: We prospectively recruited 49 consecutive adult patients admitted to the Mayo Clinic Epilepsy Monitoring Unit with focal, generalized, or unclassified epilepsy syndromes. pOSA was identified using oximetric oxyhemoglobin desaturation index (ODI) and the Sleep Apnea-Sleep Disorders Questionnaire (SA-SDQ) and STOP-BAG screening tools...
September 24, 2018: Epilepsia
Ibrahim Jalloh, Newton Cho, Vincent D W Nga, Robyn Whitney, Puneet Jain, Sameer Al-Mehmadi, Ivanna Yau, Hidehiro Okura, Elysa Widjaja, Hiroshi Otsubo, Ayako Ochi, Elizabeth Donner, Blathnaid McCoy, James Drake, Cristina Go, James T Rutka
OBJECTIVE: Polymicrogyria (PMG) is a common malformation of cortical development. Many patients with PMG will have medically refractory epilepsy but the role of epilepsy surgery is unclear. The objective of this study was to assess the efficacy of surgical resection/disconnection in achieving seizure control in pediatric patients with PMG. METHODS: A retrospective review of children undergoing epilepsy surgery for PMG between 2002 and 2017 at The Hospital for Sick Children in Toronto, Canada, was performed...
September 11, 2018: Epilepsia
Diede W M Broekaart, Jasper J Anink, Johannes C Baayen, Sander Idema, Helga E de Vries, Eleonora Aronica, Jan A Gorter, Erwin A van Vliet
OBJECTIVE: Because brain inflammation may contribute to the pathophysiology of temporal lobe epilepsy (TLE), we investigated the expression of various inflammatory markers of the innate and adaptive immune system in the epileptogenic human and rat hippocampus in relation to seizure activity and blood-brain barrier (BBB) dysfunction. METHODS: Immunohistochemistry was performed using various immune cell markers (for microglia, monocytes, macrophages, T lymphocytes, and dendritic cells) on hippocampal sections of drug-resistant TLE patients and patients who died after status epilepticus...
September 8, 2018: Epilepsia
Megan M Curran, Elizabeth Haddad, Katelin P Patterson, Mankin Choy, Celine M Dubé, Tallie Z Baram, Andre Obenaus
OBJECTIVE: A subset of children with febrile status epilepticus (FSE) are at risk for development of temporal lobe epilepsy later in life. We sought a noninvasive predictive marker of those at risk that can be identified soon after FSE, within a clinically realistic timeframe. METHODS: Longitudinal T2 -weighted magnetic resonance imaging (T2 WI MRI) of rat pups at several time points after experimental FSE (eFSE) was performed on a high-field scanner followed by long-term continuous electroencephalography...
September 6, 2018: Epilepsia
Rasesh B Joshi, Robert B Duckrow, Irina I Goncharova, Jason L Gerrard, Dennis D Spencer, Lawrence J Hirsch, Dwayne W Godwin, Hitten P Zaveri
OBJECTIVE: Studies of infraslow amplitude modulations (<0.15 Hz) of band power time series suggest that these envelope correlations may form a basis for distant spatial coupling in the brain. In this study, we sought to determine how infraslow relationships are affected by antiepileptic drug (AED) taper, time of day, and seizure. METHODS: We studied intracranial electroencephalographic (icEEG) data collected from 13 medically refractory adult epilepsy patients who underwent monitoring at Yale-New Haven Hospital...
September 6, 2018: Epilepsia
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