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Intractable epilepsy

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https://www.readbyqxmd.com/read/29679388/somatic-slc35a2-variants-in-the-brain-are-associated-with-intractable-neocortical-epilepsy
#1
Melodie R Winawer, Nicole G Griffin, Jorge Samanamud, Evan H Baugh, Dinesh Rathakrishnan, Senthilmurugan Ramalingam, David Zagzag, Catherine A Schevon, Patricia Dugan, Manu Hegde, Sameer A Sheth, Guy M McKhann, Werner K Doyle, Gerald A Grant, Brenda E Porter, Mohamad A Mikati, Carrie R Muh, Colin D Malone, Ann Marie R Bergin, Jurriaan M Peters, Danielle K McBrian, Alison M Pack, Cigdem I Akman, Christopher M LaCoursiere, Katherine M Keever, Joseph R Madsen, Edward Yang, Hart G W Lidov, Catherine Shain, Andrew S Allen, Peter Canoll, Peter B Crino, Annapurna H Poduri, Erin L Heinzen
OBJECTIVE Somatic variants are a recognized cause of epilepsy-associated focal malformations of cortical development (MCD). We hypothesized that somatic variants may underlie a wider range of focal epilepsy, including non-lesional focal epilepsy (NLFE). Through genetic analysis of brain tissue, we evaluated the role of somatic variation in focal epilepsy with and without MCD. METHODS We identified somatic variants through high-depth exome and ultra-high-depth candidate gene sequencing of DNA from epilepsy surgery specimens and leukocytes from 18 individuals with NLFE and 38 with focal MCD...
April 20, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29672310/significance-of-fdg-pet-hypermetabolism-in-children-with-intractable-focal-epilepsy
#2
Solon Schur, Victoria Allen, Andrew White, David Mirsky, Nicholas Stence, Brent O'Neill, Michael Handler, Roy Dudley, Pramote Laoprasert
BACKGROUND: Interictal 18F-fluorodeoxyglucose-positron emission topography (FDG-PET) hypometabolism is routinely used in the presurgical workup of children with medically intractable epilepsy (MIE). FDG-PET hypermetabolism, however, is rarely seen, and the significance of this finding in the epilepsy workup is not well established. METHODS: We performed a retrospective study of patients who underwent FDG-PET during the presurgical workup of MIE over a 4-year period, between 1 January 2010 and 31 December 2013, at the Children's Hospital Colorado, CO, USA...
April 19, 2018: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29669310/predictive-indicators-for-the-development-of-epilepsy-after-acute-encephalopathy-with-biphasic-seizures-and-late-reduced-diffusion
#3
Yuko Ichimiya, Noriyuki Kaku, Masafumi Sanefuji, Michiko Torio, Soichi Mizuguchi, Yoshitomo Motomura, Mamoru Muraoka, Sooyoung Lee, Haruhisa Baba, Yuri Sonoda, Yoshito Ishizaki, Momoko Sasazuki, Yasunari Sakai, Yoshihiko Maehara, Shouichi Ohga
Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a newly defined clinicoradiologic syndrome characterized by biphasic seizures and altered consciousness followed by restricted diffusion in the white matter on magnetic resonance imaging in acute phase. Intractable epilepsy commonly occurs as the late complication. This study aimed to search predisposing factors to the development of epilepsy after AESD. Consecutively treated 22 patients with AESD in our institution from 2006 to 2016 were grouped into those with post-encephalopathic epilepsy (PEE, n = 10) or without PEE (n = 12)...
April 11, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29668857/de-novo-mutations-of-the-atp6v1a-gene-cause-developmental-encephalopathy-with-epilepsy
#4
Anna Fassio, Alessandro Esposito, Mitsuhiro Kato, Hirotomo Saitsu, Davide Mei, Carla Marini, Valerio Conti, Mitsuko Nakashima, Nobuhiko Okamoto, Akgun Olmez Turker, Burcu Albuz, C Nur Semerci Gündüz, Keiko Yanagihara, Elisa Belmonte, Luca Maragliano, Keri Ramsey, Chris Balak, Ashley Siniard, Vinodh Narayanan, Chihiro Ohba, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto, Fabio Benfenati, Renzo Guerrini
V-type proton (H+) ATPase (v-ATPase) is a multi-subunit proton pump that regulates pH homeostasis in all eukaryotic cells; in neurons, v-ATPase plays additional and unique roles in synapse function. Through whole exome sequencing, we identified de novo heterozygous mutations (p.Pro27Arg, p.Asp100Tyr, p.Asp349Asn, p.Asp371Gly) in ATP6V1A, encoding the A subunit of v-ATPase, in four patients with developmental encephalopathy with epilepsy. Early manifestations, observed in all patients, were developmental delay and febrile seizures, evolving to encephalopathy with profound delay, hypotonic/dyskinetic quadriparesis and intractable multiple seizure types in two patients (p...
April 13, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29668721/ultra-high-field-mri-of-human-hippocampi-morphological-and-multiparametric-differentiation-of-hippocampal-sclerosis-subtypes
#5
Clarissa Gillmann, Roland Coras, Karl Rössler, Arnd Doerfler, Michael Uder, Ingmar Blümcke, Tobias Bäuerle
The aim of the present study is to differentiate subtypes of hippocampal sclerosis (HS) using ex vivo ultra-high field magnetic resonance imaging (MRI). Included were 14 surgically resected hippocampi of patients with medically intractable temporal lobe epilepsy. The resected hippocampi were histologically categorized into subtypes of hippocampal sclerosis (HS type 1 (n = 10), HS type 2 (n = 2) and no-HS (n = 2)) and subsequently scanned on a preclinical 7T MRI acquiring T2-weighted morphology, relaxometry and diffusion tensor imaging...
2018: PloS One
https://www.readbyqxmd.com/read/29663692/profiles-of-gene-expression-in-the-hippocampal-formation-of-rats-with-experimentally-induced-brain-dysplasia
#6
Michal Kielbinski, Zuzanna Setkowicz, Kinga Gzielo, Krzysztof Janeczko
Malformations of cortical development (MCD) are a common cause of intractable seizures in humans. Among these, focal cortical dysplasia (FCD) poses an outstanding challenge. There are several subtypes of FCD that show significant variation in pathology and clinical presentation. All types exhibit disturbed cortical cytoarchitecture and increased propensity for seizures. The etiology is likely heterogenous, with mutations, specifically in genes related to mammalian target of rapamycin (mTOR), identified in only a subset of cases...
April 16, 2018: Developmental Neurobiology
https://www.readbyqxmd.com/read/29651891/use-of-vagus-nerve-stimulator-on-children-with-primary-generalized-epilepsy
#7
William P Welch, Bilal Sitwat, Yoshimi Sogawa
OBJECTIVE: To describe the response to vagus nerve stimulator (VNS) in otherwise neurotypical children with medically intractable primary generalized epilepsy. METHODS: Retrospective chart review of patients who underwent vagus nerve stimulator surgery between January 2011 and December 2015. RESULTS: Eleven patients were identified. Median follow-up duration was 2.5 years (1.2-8.4 years). Prior to vagus nerve stimulator surgery, all patients had at least 1 seizure per week, and 7/11 (64%) had daily seizures...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29651746/human-neural-stem-progenitor-cells-derived-from-epileptic-human-brain-in-a-self-assembling-peptide-nanoscaffold-improve-traumatic-brain-injury-in-rats
#8
Ali Jahanbazi Jahan-Abad, Sajad Sahab Negah, Hassan Hosseini Ravandi, Sedigheh Ghasemi, Maryam Borhani-Haghighi, Walter Stummer, Ali Gorji, Maryam Khaleghi Ghadiri
Traumatic brain injury (TBI) is a disruption in the brain functions following a head trauma. Cell therapy may provide a promising treatment for TBI. Among different cell types, human neural stem cells cultured in self-assembling peptide scaffolds have been suggested as a potential novel method for cell replacement treatment after TBI. In the present study, we accessed the effects of human neural stem/progenitor cells (hNS/PCs) derived from epileptic human brain and human adipose-derived stromal/stem cells (hADSCs) seeded in PuraMatrix hydrogel (PM) on brain function after TBI in an animal model of brain injury...
April 12, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29626122/age-specific-18-f-fdg-image-processing-pipelines-and-analysis-are-essential-for-individual-mapping-of-seizure-foci-in-paediatric-patients-with-intractable-epilepsy
#9
Bianca De Blasi, Anna Barnes, Ilaria Boscolo Galazzo, Chia-Ho Hua, Barry Shulkin, Matthias Koepp, Martin Tisdall
Fluoro-18-deoxyglucose positron emission tomography (FDG-PET) is an important tool for the pre-surgical assessment of children with drug-resistant epilepsy. Standard assessment is carried out visually and this is often subjective and highly user-dependent. Voxel-wise statistics can be used to remove user-dependent biases by automatically identifying areas of significant hypo/hyper-metabolism, associated to the epileptogenic area. In the clinical settings, this analysis is carried out using commercially available software...
April 6, 2018: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/29614761/quality-of-life-and-stigma-in-epilepsy-perspectives-from-selected-regions-of-asia-and-sub-saharan-africa
#10
REVIEW
Warren Boling, Margaret Means, Anita Fletcher
Epilepsy is an important and common worldwide public health problem that affects people of all ages. A significant number of individuals with epilepsy will be intractable to medication. These individuals experience an elevated mortality rate and negative psychosocial consequences of recurrent seizures. Surgery of epilepsy is highly effective to stop seizures in well-selected individuals, and seizure freedom is the most desirable result of epilepsy treatment due to the positive improvements in psychosocial function and the elimination of excess mortality associated with intractable epilepsy...
April 1, 2018: Brain Sciences
https://www.readbyqxmd.com/read/29610033/ketogenic-diet-therapy-in-infants-efficacy-and-tolerability
#11
Elaine Wirrell, Susan Eckert, Lily Wong-Kisiel, Eric Payne, Katherine Nickels
PURPOSE: This study evaluated tolerability and efficacy of the ketogenic diet in infants less than 12 months of age. METHODS: Infants <12 months of age, commencing the ketogenic diet between September 2007 and July 2016 were identified. Records were reviewed for epilepsy details, diet initiation details, efficacy and tolerability. RESULTS: Twenty-seven infants commenced the ketogenic diet (56% male, median age seven months). Median age at seizure onset was 1...
January 31, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29609147/the-clinical-characteristics-of-posttraumatic-epilepsy-following-moderate-to-severe-traumatic-brain-injury-in-children
#12
Amit Keret, Moatasim Shweiki, Odeya Bennett-Back, Fadia Abed-Fteiha, Israel Matoth, Yigal Shoshan, Mony Benifla
PURPOSE: Children with traumatic brain injury (TBI) are at increased risk of posttraumatic epilepsy (PTE); the risk increases according to TBI severity. We examined the long-term incidence and risk factors for developing PTE in a cohort of children hospitalised at one medical centre with moderate or severe TBI. METHODS: Moderate brain injury was classified as Glasgow Coma Score on Arrival (GCSOA) of 9-13, and severe brain injury as GCSOA ≤8. We collected demographics and clinical data from medical records and interviewed patients and parents at 5-11 years following the TBI event...
March 20, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29605698/left-frontal-meningioangiomatosis-associated-with-type-iiic-focal-cortical-dysplasia-causing-refractory-epilepsy-and-literature-review
#13
Alexandre Roux, Charles Mellerio, Emmanuelle Lechapt-Zalcman, Megan Still, Michel Zerah, Marie Bourgeois, Johan Pallud
BACKGROUND: We report the surgical management of a lesional drug-resistant epilepsy caused by a meningioangiomatosis associated with a type IIIc focal cortical dysplasia located in the left supplementary motor area in a young male patient. CASE DESCRIPTION: A first anatomical-based partial surgical resection was performed at 11 years old under general anaesthesia without intraoperative mapping, which allowed for postoperative seizure control (Engel IA) for six years...
March 29, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29604610/long-term-outcome-after-epilepsy-surgery-in-older-adults
#14
Johannes D Lang, Laura Grell, Mareike Hagge, Müjgan Dogan Onugoren, Stephanie Gollwitzer, Wolfgang Graf, Michael Schwarz, Roland Coras, Ingmar Blümcke, Björn Sommer, Karl Rössler, Michael Buchfelder, Stefan Schwab, Hermann Stefan, Hajo M Hamer
PURPOSE: The incidence of epilepsy in older adults is growing, as does the incidence of comorbidities. Therefore, when it comes to epilepsy surgery in medically intractable epilepsy, age is often seen as a limiting factor. To investigate the outcome after epilepsy surgery in a population of older adults, we compared the benefit for patients aged 50-59 years with those aged 60 years and older in respect of efficacy and safety. METHOD: Patients aged ≥50 years with medically intractable epilepsy who underwent epilepsy surgery from 1990 to 2013 were selected from the database of a German epilepsy center...
March 6, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29588983/ketogenic-diet-for-treatment-of-intractable-epilepsy-in-adults-a-meta-analysis-of-observational-studies
#15
REVIEW
Hongyan Liu, Yi Yang, Yunbing Wang, Hong Tang, Fan Zhang, Yong Zhang, Yong Zhao
The ketogenic diet (KD) is an effective treatment for children with drug-resistant epilepsy and has been widely used in young children. Adult patients with intractable epilepsy would also benefit from this dietary treatment. However, only a few studies have been published, and the use of the KD in intractable epilepsy in adults has been limited. This meta-analysis summarized the findings of the relevant published studies to identify the efficacy of the KD for the treatment of intractable epilepsy in adults...
March 2018: Epilepsia Open
https://www.readbyqxmd.com/read/29588979/claustrum-hyperintensities-a-potential-clue-to-autoimmune-epilepsy
#16
Claude Steriade, David F Tang-Wai, Timo Krings, Richard Wennberg
In a cohort of 34 patients with autoimmune limbic encephalitis and/or epilepsy, we identified 4 patients exhibiting claustrum fluid-attenuated inversion recovery (FLAIR) hyperintensities. All 4 patients presented with explosive onset of seizures and developed medically intractable epilepsy, and 2 exhibited a marked response to immunotherapy. Associated features included cognitive and behavioral disturbances (4/4), cerebrospinal fluid (CSF) lymphocytic pleocytosis (3/4), and a neural autoantibody (2/4). Electroencephalogram (EEG) features consisted of slow wave activity and epileptiform discharges in frontal and parasagittal regions, where ictal patterns were captured in 1 patient...
December 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29588960/the-relationship-between-d-beta-hydroxybutyrate-blood-concentrations-and-seizure-control-in-children-treated-with-the-ketogenic-diet-for-medically-intractable-epilepsy
#17
Jeffrey R Buchhalter, Sabrina D'Alfonso, Mary Connolly, Ernest Fung, Aspasia Michoulas, David Sinasac, Rachel Singer, Jacklyn Smith, Narender Singh, Jong M Rho
Objective: The ketogenic diet (KD) is a proven treatment for drug-resistant (DR) seizures in children and adolescents. However, the relationship between seizure control and the most commonly measured metabolite of the diet, the ketone body d-beta-hydroxybutyrate (D-BHB), is controversial. This study was performed to clarify the relationship because specific ketone bodies may be useful as biomarkers of diet efficacy. Methods: Families of children with DR seizures were approached for participation in this open-label, prospective study when they were referred for the KD at two western Canadian children's hospitals...
September 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29588956/high-frequency-oscillations-detected-in-ecog-recordings-correlate-with-cavernous-malformation-and-seizure-free-outcome-in-a-child-with-focal-epilepsy-a-case-report
#18
Su Liu, Michael M Quach, Daniel J Curry, Monika Ummat, Elaine Seto, Nuri F Ince
Epilepsy associated with cavernous malformation (CM) often requires surgical resection of seizure focus to achieve seizure-free outcome. High-frequency oscillations (HFOs) in intracranial electroencephalogram (EEG) are reported as potential biomarkers of epileptogenic regions, but to our knowledge there are no data on the existence of HFOs in CM-caused epilepsy. Here we report our experience of the identification of the seizure focus in a 3-year-old pediatric patient with intractable epilepsy associated with CM...
June 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29588946/effective-withdrawal-of-antiepileptic-drugs-in-premonitoring-admission-to-capture-seizures-during-limited-video-eeg-monitoring
#19
Kota Kagawa, Koji Iida, Shiro Baba, Akira Hashizume, Masaya Katagiri, Kaoru Kurisu, Hiroshi Otsubo
Objective: Withdrawal of antiepileptic drugs (AEDs) is commonly applied to capture seizures in video-EEG (vEEG) monitoring for patients with infrequent but intractable seizures. Because of the half-life of AEDs, AED withdrawal during only vEEG tends to be inadequate to provoke seizures within the vEEG admission. We hypothesize that prewithdrawal of long-half-life AEDs in premonitoring admission (PMA) is safe and effective to capture seizures in the limited time of vEEG. We determined the effect of half-life on the interval between AED withdrawal and seizure occurrence...
June 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29588945/seven-tesla-mri-improves-detection-of-focal-cortical-dysplasia-in-patients-with-refractory-focal-epilepsy
#20
Tim J Veersema, Cyrille H Ferrier, Pieter van Eijsden, Peter H Gosselaar, Eleonora Aronica, Fredy Visser, Jaco M Zwanenburg, Gerard A P de Kort, Jeroen Hendrikse, Peter R Luijten, Kees P J Braun
Objective: The aim of this study is to determine whether the use of 7 tesla (T) MRI in clinical practice leads to higher detection rates of focal cortical dysplasias in possible candidates for epilepsy surgery. Methods: In our center patients are referred for 7 T MRI if lesional focal epilepsy is suspected, but no abnormalities are detected at one or more previous, sufficient-quality lower-field MRI scans, acquired with a dedicated epilepsy protocol, or when concealed pathology is suspected in combination with MR-visible mesiotemporal sclerosis-dual pathology...
June 2017: Epilepsia Open
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