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Mark D Baker, Bassel W Abou-Khalil, Amir Arain, Pavan Tummala, Nabil J Azar, Kevin F Haas, Hasan H Sonmezturk
OBJECTIVES: Post marketing analysis of anti-epileptic drug (AED) efficacy and tolerability is of great value to the clinician since it is more representative of clinical practice than clinical trial data. We analyzed our experience with lacosamide (LCM) in patients treated after marketing. PATIENTS AND METHODS: We identified all patients who were treated with LCM during the four year period after marketing, excluding patients who were in clinical trials. We recorded demographic data and analyzed efficacy and tolerability in patients who had at least one follow up visit or telephone call 3 months after the initiation of LCM...
June 13, 2018: Clinical Neurology and Neurosurgery
Pin Fee Chong, Hirotomo Saitsu, Yasunari Sakai, Toru Imagi, Ryoko Nakamura, Masaru Matsukura, Naomichi Matsumoto, Ryutaro Kira
SCN2A encodes the alpha-subunit of voltage-gated sodium channel, Nav1.2, which is highly expressed at an early stage of the postnatal brain. Genetic studies revealed that de novo heterozygous mutations of SCN2A caused severe developmental disorders in childhood, such as autism and epileptic encephalopathy. However, few reports have demonstrated the cases carrying segmental deletions at the SCN2A locus for those with epileptic disorders. In this study, we report a 1.8-year-old boy, who presented with West syndrome in infancy and developed the sequelae of psychomotor delay and autism...
June 13, 2018: Seizure: the Journal of the British Epilepsy Association
Meng-Na Zhang, Li-Ping Zou, Yang-Yang Wang, Ling-Yu Pang, Shu-Fang Ma, Lu-Lu Huang, Yang Gao, Qian Lu, David Neal Franz
PURPOSE: Tuberous sclerosis (TSC) is an autosomal dominant inherited disease caused by mutations in the TSC1 or TSC2 gene and results in the over-activation of the mammalian target of the rapamycin (mTOR) signaling pathway. Rapamycin, an mTOR inhibitor, is clinically used to treat hamartomatous lesionsas in TSC and its effect on controlling epilepsy is also reported in many studies. This study aims to evaluate the risk factors of pharmacoresistant epilepsy in patients with TSC receiving long-term rapamycin treatment...
June 15, 2018: Seizure: the Journal of the British Epilepsy Association
Karina Vargas-Sánchez, Maria Mogilevskaya, John Rodríguez-Pérez, María G Rubiano, José J Javela, Rodrigo E González-Reyes
Status epilepticus is a medical emergency with elevated morbidity and mortality rates, and represents a leading cause of epilepsy-related deaths. Though status epilepticus can occur at any age, it manifests more likely in children and elderly people. Despite the common prevalence of epileptic disorders, a complete explanation for the mechanisms leading to development of self-limited or long lasting seizures (as in status epilepticus) are still lacking. Apart from neurons, research evidence suggests the involvement of immune and glial cells in epileptogenesis...
June 1, 2018: Oncotarget
R C Caylor, L Grote, I Thiffault, E G Farrow, L Willig, S Soden, S M Amudhavalli, A J Nopper, K A Horii, E Fleming, J Jenkins, H Welsh, A M Ilyas, K Engleman, A Abdelmoity, C J Saunders
Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder characterized by lesions and benign tumors in multiple organ systems including the brain, skin, heart, eyes, kidneys, and lungs. The phenotype is highly variable, although penetrance is reportedly complete. We report the molecular diagnosis of TSC in individuals exhibiting extreme intra-familial variability, including the incidental diagnosis of asymptomatic family members. Exome sequencing was performed in three families, with probands referred for epilepsy, autism, and absent speech (Family 1); epileptic spasms (Family 2); and connective tissue disorders (Family 3...
June 20, 2018: Neurogenetics
Matthis Synofzik, Katherine L Helbig, Florian Harmuth, Tine Deconinck, Pranoot Tanpaiboon, Bo Sun, Wenting Guo, Ruiwu Wang, Erika Palmaer, Sha Tang, G Bradley Schaefer, Janina Gburek-Augustat, Stephan Züchner, Ingeborg Krägeloh-Mann, Jonathan Baets, Peter de Jonghe, Peter Bauer, S R Wayne Chen, Ludger Schöls, Rebecca Schüle
We explored the clinico-genetic basis of spinocerebellar ataxia 29 (SCA29) by determining the frequency, phenotype, and functional impact of ITPR1 missense variants associated with early-onset ataxia (EOA). Three hundred thirty one patients from a European EOA target cohort (n = 120), US-American EOA validation cohort (n = 72), and early-onset epileptic encephalopathy (EOEE) control cohort (n = 139) were screened for de novo ITPR1 variants. The target cohort was also screened for inherited ITPR1 variants...
June 20, 2018: European Journal of Human Genetics: EJHG
François David, Nihan Çarçak, Szabina Furdan, Filiz Onat, Timothy Gould, Ádám Mészáros, Giuseppe Di Giovanni, Vivian M Hernández, C Savio Chan, Magor L Lőrincz, Vincenzo Crunelli
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels and the Ih current they generate contribute to the pathophysiological mechanisms of absence seizures (ASs), but their precise role in neocortical and thalamic neuronal populations, the main components of the network underlying AS generation remains controversial. In diverse genetic AS models, Ih amplitude is smaller in neocortical neurons and either larger or unchanged in thalamocortical (TC) neurons compared to non-epileptic strains. A lower expression of neocortical HCN subtype 1 channels is present in genetic AS-prone rats and HCN2 Knock-Out mice exhibit ASs...
June 20, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Andrew Todd Ham, Jill Mackey, Gary Semb
Continuous electroencephalography (CEEG) is chiefly performed at The Medical University of South Carolina (MUSC) for identifying seizures, including its refined use within the epilepsy monitoring unit (EMU) as a differentiator between epileptic and psychogenic etiologies. CEEG also provides critical data that carry implications outside the bounds of both epilepsy and psychogenic events, such as the characterization of unorthodox clinical phenomena that are of physiological (though nonepileptic) origins. Although nonepileptic events (NEEs) are primarily linked with psychogenic phenomena (conversion disorder, malingering) that can mimic epileptic activity, they, like seizures, have diverse semiologies and etiologies...
2018: Neurodiagnostic Journal
Arcangela Iuso, Bader Alhaddad, Corina Weigel, Urania Kotzaeridou, Elisa Mastantuono, Thomas Schwarzmayr, Elisabeth Graf, Caterina Terrile, Holger Prokisch, Tim M Strom, Georg F Hoffmann, Thomas Meitinger, Tobias B Haack
SLC25A42 is an inner mitochondrial membrane protein which has been shown to transport coenzyme A through a lipid bilayer in vitro. A homozygous missense variant in this gene has been recently reported in 13 subjects of Arab descent presenting with mitochondriopathy with variable clinical manifestations. By exome sequencing, we identified two additional individuals carrying rare variants in this gene. One subject was found to carry the previously reported missense variant in homozygous state, while the second subject carried a homozygous canonical splice site variant resulting in a splice defect...
June 20, 2018: JIMD Reports
W-S Huang, L Zhu
OBJECTIVE: To investigate the expression of miR-134 and the change of inflammatory cytokines in seizure rats and to explore its relationship. MATERIALS AND METHODS: A rat model of seizures was made by an intraperitoneal injection with kainic acid. ELISA kit for detection of seizures in rats was used. The changes of inflammatory cytokines (IL-1, IL-2, IL-6, TNF-α, IFN-γ) and the hippocampal neuronal cell growth were observed. The expression of miR-134 in brain tissue and serum samples of model group and control group was determined by reverse transcriptase-polymerase chain reaction (RT-PCR) quantitative determination...
June 2018: European Review for Medical and Pharmacological Sciences
Shawna S Kim, Georgia Nikoloudaki, Mark Darling, Michael J Rieder, Douglas W Hamilton
Drug-induced gingival enlargement (DIGE) is a fibrotic condition associated with systemic administration of the anti-epileptic drug, phenytoin. We have previously demonstrated that periostin, which is transforming growth factor-beta (TGF-β) inducible gene, is upregulated in various fibrotic conditions including gingival enlargement associated with nifedipine. The objective of this study was to assess periostin expression in phenytoin-induced gingival enlargement (PIGE) tissues and to investigate the mechanisms underlying periostin expression...
June 19, 2018: Histology and Histopathology
Declan T Chard
Despite the now significant contribution of magnetic resonance imaging, the accurate and timely diagnosis of multiple sclerosis (MS) is still clinically challenging. Al Hussona et al., with their case series, highlight the complexities of attributing paroxysmal, and in particular cortical, symptoms such as epileptic seizures to inflammatory demyelinating lesions, and establishing a diagnosis of MS based on them. In such circumstances an MS diagnosis is likely to be more tentative than for more typical MS presentations, and treatment choices should be weighed accordingly...
June 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
Mariam Al Hussona, Hugh Kearney, Arie Fisher, John Lynch, Seamus Looby, Norman Delanty
BACKGROUND AND OBJECTIVES: Epileptic seizures frequently occur in people with multiple sclerosis (MS) and are thought to represent a manifestation of cortical pathology. However, at present, seizures are not considered to be a typical clinical presentation of demyelination. METHODS AND RESULTS: In this case series, we identified four people, who presented with seizures as a sole presenting feature, with demyelinating imaging abnormalities that satisfy current diagnostic criteria for a clinically isolated syndrome (CIS) or early MS...
June 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
Khaled K Al-Dossari, Sameer Al-Ghamdi, Jamaan Al-Zahrani, Imad Abdulmajeed, Maher Alotaibi, Humoud Almutairi, Abdulrahman BinSwilim, Omar Alhatlan
Introduction: Epilepsy is one of the most stigmatizing disorders. Stigmas and negative attitudes associating epilepsy are due to poor public awareness and knowledge. This study evaluated Saudi public Knowledge, awareness, and attitude towards epilepsy. Materials and Methods: A cross-sectional study conducted during the period from September 16, 2014 to January 1st 2015. A 20-item questionnaire adapted from the literature was validated and distributed to 422 adults living in Al-Kharj governorate, and 22 participants were excluded as they have never heard or read about epilepsy...
January 2018: Journal of Family Medicine and Primary Care
Leila Amini, Marjan Hematian, Ali Montazeri, Korosh Gharegozli
Introduction: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders; the impact of epilepsy and antiepileptic drugs influences the function of hypothalamic-pituitary-gonadal axis and dysfunction of the endocrine system and reproductive hormones in women with epilepsy. This study was carried out with an aim of determining and comparing the frequency and intensity of the complications of the hirsutism in women with and without epilepsy in Tehran in 2016-2017. Materials and Methods: This is a cross-sectional-comparative study which was carried out on 338 women of 18-35-year-old women with and without epilepsy who were selected by continuous sampling method...
January 2018: Journal of Family Medicine and Primary Care
Aliesha Griffin, Kyla R Hamling, SoonGweon Hong, Mana Anvar, Luke P Lee, Scott C Baraban
Epilepsy is a common chronic neurological disease affecting almost 3 million people in the United States and 50 million people worldwide. Despite availability of more than two dozen FDA-approved anti-epileptic drugs (AEDs), one-third of patients fail to receive adequate seizure control. Specifically, pediatric genetic epilepsies are often the most severe, debilitating and pharmaco-resistant forms of epilepsy. Epileptic syndromes share a common symptom of unprovoked seizures. While some epilepsies/forms of epilepsy are the result of acquired insults such as head trauma, febrile seizure, or viral infection, others have a genetic basis...
2018: Frontiers in Pharmacology
Xiaomeng Yin, Beisha Tang, Xiao Mao, Jinxin Peng, Sheng Zeng, Yaqin Wang, Hong Jiang, Nan Li
Mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) are a family of enzymes that play critical roles in protein biosynthesis. Mutations in mt-aaRSs are associated with various diseases. As a member of the mt-aaRS family, PARS2 encoding prolyl-tRNA synthetase 2 was recently shown to be associated with Alpers syndrome and certain infantile-onset neurodegenerative disorders in four patients. Here, we present two patients in a pedigree with early developmental delay, epileptic spasms, delayed myelination combined with cerebellar white matter abnormalities, and progressive cortical atrophy...
June 18, 2018: Journal of Human Genetics
Giulia Cagnotti, Rosangela Odore, Giulia Gardini, Stefano Amedeo, Iride Bertone, Giulia Guerriero, Laura Lentini, Elena Dappiano, Antonio D'Angelo
BACKGROUND: Levetiracetam can be used for seizure control alone or in combination with other antiepileptic medications. A previous study achieved the minimum targeted serum drug concentration after rectal administration of levetiracetam in healthy dogs. The purpose of the present study was to determine the pharmacokinetics of rectal LEV in dogs presented for cluster seizures or status epilepticus and potentially in treatment with other anti-epileptic drugs. Furthermore, preliminary information on response to this treatment as add-on to the standard treatment protocol is reported...
June 18, 2018: BMC Veterinary Research
E Hansson, L Block, U Björklund, B Biber
Aims In inflammation-reactive astrocytes the cell parameters, Ca2+ signalling, Na+ transporters, cytoskeleton, and release of proinflammatory cytokines are affected. We want to re-establish these parameters with agents, which might have a potential to restore the cells back to a normal non-inflammatory level. Methods Astrocytes in primary cultures were incubated with lipopolysaccharide (LPS) (10 ng/ml) for 24 h to become inflammation-reactive. Different parameters were analysed to verify this inflammation: Ca2+ signalling, Na+/K+-ATPase expression, actin filament organization, and interleukin-1beta release (IL-1β)...
December 29, 2017: Scandinavian Journal of Pain
Dylan Durie, Tanya S McDonald, Karin Borges
A recent report has found that glucose oxidation and the activity of pyruvate dehydrogenase (PDH) are reduced in the chronic stage of the pilocarpine mouse epilepsy model. This is likely caused by increased phosphorylation by PDH kinase of the E1α subunit of PDH, downregulating its activity. Inhibition of this phosphorylation has not yet been explored as a possible approach to treat epilepsy. Chronic dichloroacetate (DCA, 50 and 100 mg/kg/day) treatment was tested in acute seizure and the chronic pilocarpine models...
June 15, 2018: Epilepsy Research
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