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https://www.readbyqxmd.com/read/28631894/serpini1-pathogenic-variants-an-emerging-cause-of-childhood-onset-progressive-myoclonic-epilepsy
#1
Emmanuelle Ranza, Stephanie Garcia-Tarodo, Konstantinos Varvagiannis, Michel Guipponi, Johannes A Lobrinus, Armand Bottani, Ilse Kern, Mary Kurian, Marie-Pascale Pittet, Stylianos E Antonarakis, Joel Fluss, Christian M Korff
Progressive myoclonic epilepsies are rare neurodegenerative diseases with a wide spectrum of clinical presentations and genetic heterogeneity that render their diagnosis perplexing. Discovering new imputable genes has been an ongoing process in recent years. We present two pediatric cases of progressive myoclonic epilepsy with SERPINI1 pathogenic variants that lead to a severe presentation; we highlight the importance of including this gene, previously known as causing an adult-onset dementia-epilepsy syndrome, in the genetic work-up of childhood-onset progressive myoclonic epilepsies...
June 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28623754/quality-of-life-mood-and-seizure-control-in-patients-with-brain-tumor-related-epilepsy-treated-with-lacosamide-as-add-on-therapy-a-prospective-explorative-study-with-a-historical-control-group
#2
Marta Maschio, Alessia Zarabla, Andrea Maialetti, Alessandra Fabi, Antonello Vidiri, Veronica Villani, Diana Giannarelli
OBJECTIVE: Brain tumor-related epilepsy (BTRE) is often drug resistant and patients can be forced to take polytherapy that can adversely affect their quality of life (QoL). Lacosamide (LCM) is a new antiepileptic drug (AED) used as adjunctive therapy in patients with partial seizures with or without secondary generalization, with a favorable pharmacokinetic profile that seems to be effective and well tolerated. Therefore it represents a possible therapeutic choice for patients with BTRE...
June 14, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28608234/genomics-guided-precise-anti-epileptic-drug-development
#3
Norman Delanty, Gianpiero Cavallleri
Traditional antiepileptic drug development approaches have yielded many important clinically valuable anti-epileptic drugs. However, the screening of promising compounds has been naturally agnostic to epilepsy etiology in individual human patients. Now, genomic medicine is changing the way we view human disease. International collaborations are unraveling the many molecular genetic causes of the epilepsies, including the early onset epileptic encephalopathies, and some of the familial focal epilepsies. Further advances in precision diagnostics will be facilitated by ongoing large collaborations and the wider availability of whole exome and whole genome sequencing in clinical practice...
June 12, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28599256/cirrhosis-patients-stroke-risks-and-adverse-outcomes-two-nationwide-studies
#4
Hsin-Yun Wu, Chao-Shun Lin, Chun-Chieh Yeh, Chaur-Jong Hu, Chun-Chuan Shih, Yih-Giun Cherng, Ta-Liang Chen, Chien-Chang Liao
BACKGROUND & AIMS: The association between liver cirrhosis (LC) and stroke is not completely understood. Our purpose was to evaluate stroke risk and post-stroke outcomes in patients with LC. METHODS: We identified 6944 adults aged 20 years and older, newly diagnosed with LC, using the Taiwan's National Health Insurance Research Database from 2000 to 2005. The comparison cohort consisted of 27,776 adults without LC, randomly selected by frequency matching in age and sex...
May 25, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28596596/optical-mapping-of-neuronal-activity-during-seizures-in-zebrafish
#5
L Turrini, C Fornetto, G Marchetto, M C Müllenbroich, N Tiso, A Vettori, F Resta, A Masi, G Mannaioni, F S Pavone, F Vanzi
Mapping neuronal activity during the onset and propagation of epileptic seizures can provide a better understanding of the mechanisms underlying this pathology and improve our approaches to the development of new drugs. Recently, zebrafish has become an important model for studying epilepsy both in basic research and in drug discovery. Here, we employed a transgenic line with pan-neuronal expression of the genetically-encoded calcium indicator GCaMP6s to measure neuronal activity in zebrafish larvae during seizures induced by pentylenetretrazole (PTZ)...
June 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28577562/current-role-of-perampanel-in-pediatric-epilepsy
#6
REVIEW
Paola De Liso, Romina Moavero, Giangennaro Coppola, Paolo Curatolo, Raffaella Cusmai, Giovambattista De Sarro, Emilio Franzoni, Federico Vigevano, Alberto Verrotti
Perampanel is among the latest AEDs approved, indicated for the treatment of partial-onset seizures with or without secondary generalization, and for primary generalized tonic-clonic seizures, in patients aged 12 years and older. This paper summarizes the clinical recommendations on the current role of perampanel in the treatment of pediatric epilepsies and future directions for research. The optimal dosage should be comprised between 4 and 12 mg/day, with 8 mg/day being the most common dosage used. The rate and severity of adverse events, including psychiatric symptoms, can be decreased by starting at low doses, and titrating slowly...
June 2, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28575765/the-influence-of-levetiracetam-on-psychosocial-and-behavioral-functioning-in-children-a-case-control-and-follow-up-study
#7
Gonca Bektaş, Uğur Tekin, Melis Ulak Özkan, Edibe Pembegül Yıldız, Mine Çalışkan, Meral Özmen, Nur Aydınlı
BACKGROUND: Levetiracetam, a widely used antiepileptic drug in children, has been associated with psychosocial and behavioral problems, which are also influenced by epilepsy variables, including duration or seizure frequency. PURPOSE: The objective of this study is to investigate the frequency and timing of treatment-emergent psychosocial and behavioral problems in children receiving levetiracetam, irrespective of seizure variables which are possible confounders...
May 30, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28565819/genetic-basis-of-pediatric-epilepsy-syndromes
#8
Dongli Zhang, Xiaoming Liu, Xingqiang Deng
Childhood epilepsy affects ~0.5-1% in the general population worldwide. Early-onset epileptic encephalopathies are considered to be severe neurological disorders, which lead to impaired motor, cognitive, and sensory development due to recurrence of seizures. Many of the observed epilepsy phenotypes are associated with specific chromosomal imbalances and thus display gene dosage effects, and also specific mutations of a variety of genes ranging from ion channels to transcription factors. High throughput sequencing technologies and whole exome sequencing have led to the recognition of several new candidate genes with a possible role in the pathogenesis of epileptic encephalopathies...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28555833/predictive-models-in-the-diagnosis-and-treatment-of-autoimmune-epilepsy
#9
Divyanshu Dubey, Jaysingh Singh, Jeffrey W Britton, Sean J Pittock, Eoin P Flanagan, Vanda A Lennon, Jan-Mendelt Tillema, Elaine Wirrell, Cheolsu Shin, Elson So, Gregory D Cascino, Dean M Wingerchuk, Matthew T Hoerth, Jerry J Shih, Katherine C Nickels, Andrew McKeon
OBJECTIVE: To validate predictive models for neural antibody positivity and immunotherapy response in epilepsy. METHODS: We conducted a retrospective study of epilepsy cases at Mayo Clinic (Rochester-MN; Scottsdale-AZ, and Jacksonville-FL) in whom autoimmune encephalopathy/epilepsy/dementia autoantibody testing profiles were requested (06/30/2014-06/30/2016). An Antibody Prevalence in Epilepsy (APE) score, based on clinical characteristics, was assigned to each patient...
May 26, 2017: Epilepsia
https://www.readbyqxmd.com/read/28551500/psychiatric-side-effects-and-antiepileptic-drugs-observations-from-prospective-audits
#10
Linda J Stephen, Abbie Wishart, Martin J Brodie
Psychiatric comorbidities are common in people with epilepsy. A retrospective study of characteristics associated with withdrawal due to psychiatric side effects was undertaken in patients with treated epilepsy participating in prospective audits with new antiepileptic drugs (AEDs). A total of 1058 treated patients with uncontrolled seizures (942 focal-onset seizures, 116 generalized genetic epilepsies [GGEs]) participated in eight prospective, observational audits from 1996 to 2014. These patients were prescribed adjunctive topiramate (n=170), levetiracetam (n=220), pregabalin (n=135), zonisamide (n=203), lacosamide (n=160), eslicarbazepine acetate (n=52), retigabine (n=64), or perampanel (n=54)...
June 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28549652/the-fault-in-their-stars-accumulating-astrocytic-inclusions-associated-with-clusters-of-epileptic-spasms-in-children-with-global-developmental-delay
#11
Robyn Whitney, Sameer AlMehmadi, Bláthnaid McCoy, Ivanna Yau, Ayako Ochi, Hiroshi Otsubo, Shelly K Weiss, James Rutka, Lili-Naz Hazrati, O Carter Snead, Cristina Go
BACKGROUND: The presence of cerebral astrocytic inclusions recently has been described in a subset of children with early-onset refractory epilepsy, with or without structural brain malformations, and varying degrees of developmental delay. METHODS: We describe two new individuals with epilepsy with astrocytic inclusions and suggest that in some children this disorder may represent a unique hemispheric epilepsy. We review previously reported individuals with epilepsy with astrocytic inclusions...
April 18, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28532713/electroencephalography-after-a-single-unprovoked-seizure
#12
REVIEW
Derek B Debicki
Electroencephalography (EEG) is an essential diagnostic tool in the evaluation of seizure disorders. In particular, EEG is used as an additional investigation for a single unprovoked seizure. Epileptiform abnormalities are related to seizure disorders and have been shown to predict recurrent unprovoked seizures (i.e., a clinical definition of epilepsy). Thus, the identification of epileptiform abnormalities after a single unprovoked seizure can inform treatment options. The current review addresses the relationship between EEG abnormalities and seizure recurrence...
July 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28532711/psychiatric-comorbidities-in-new-onset-epilepsy-should-they-be-always-investigated
#13
REVIEW
Andres M Kanner
The new definition of epilepsy establishes that epilepsy is not only a disorder presenting with epileptic seizures but it can be often associated with cognitive and psychiatric comorbidities. In fact, the prevalence of psychiatric comorbidities is relatively high in patients with epilepsy (PWE), as one in three patients will have experienced a psychiatric disorder in the course of their life, with mood and anxiety disorders being the most frequent. Psychiatric comorbidities often precede the onset of the seizure disorder, and affect the life of these patients and the course of the seizure disorder at several levels, including a worse tolerance of pharmacotherapy with antiepileptic drugs (AEDs), in particular the development of iatrogenic psychiatric symptoms from pharmacologic and surgical treatments, an increased mortality risk, a worse quality of life and higher economic burdens of the patient, family and society as a hole...
July 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28510905/zoomed-mri-guided-by-combined-eeg-meg-source-analysis-a-multimodal-approach-for-optimizing-presurgical-epilepsy-work-up-and-its-application-in-a-multi-focal-epilepsy-patient-case-study
#14
Ü Aydin, S Rampp, A Wollbrink, H Kugel, J -H Cho, T R Knösche, C Grova, J Wellmer, C H Wolters
In recent years, the use of source analysis based on electroencephalography (EEG) and magnetoencephalography (MEG) has gained considerable attention in presurgical epilepsy diagnosis. However, in many cases the source analysis alone is not used to tailor surgery unless the findings are confirmed by lesions, such as, e.g., cortical malformations in MRI. For many patients, the histology of tissue resected from MRI negative epilepsy shows small lesions, which indicates the need for more sensitive MR sequences...
May 16, 2017: Brain Topography
https://www.readbyqxmd.com/read/28506485/surgery-for-dysembryoplastic-neuroepithelial-tumors-and-gangliogliomas-in-eloquent-areas-functional-results-and-seizure-control
#15
B Devaux, F Chassoux, E Landré, B Turak, A Laurent, M Zanello, C Mellerio, P Varlet
INTRODUCTION: Dysembryoplastic neuroepithelial tumors and gangliogliomas are developmental glioneuronal tumors usually revealed by partial epilepsy. High epileptogenicity, childhood epilepsy onset, drug-resistance, temporal location, and seizure freedom after complete resection are common characteristics of both tumors. We report the specificity of surgical management, functional results and seizure outcome in cases of a tumor location in eloquent areas. METHODS: Among 150 patients (88 males, 3-55 years) operated on for refractory epilepsy due to a glioneuronal tumor (1990-2015), 30 (20%, dysembryoplastic neuroepithelial tumors=21; gangliogliomas=9) had a tumor located in an eloquent cortex (sensory-motor, insular or language areas)...
May 12, 2017: Neuro-Chirurgie
https://www.readbyqxmd.com/read/28504953/adaptive-seizure-onset-detection-framework-using-a-hybrid-pca-csp-approach
#16
Sina Khanmohammadi, Chun-An Chou
Epilepsy is one of the most common neurological disorders in the world. Prompt detection of seizure onset from electroencephalogram (EEG) signals can improve the treatment of epileptic patients. This paper presents a new adaptive patientspecific seizure onset detection framework that dynamically selects a feature from enhanced EEG signals to discriminate seizures from normal brain activity. The proposed framework employs principle component analysis (PCA) and common spatial patterns (CSP) to enhance the EEG signals and uses the extracted discriminative feature as an input for adaptive distance-based change point detector to identify the seizure onsets...
May 12, 2017: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/28476758/poststroke-epilepsy-in-long-term-survivors-of-primary-intracerebral-hemorrhage
#17
Anna-Maija Lahti, Pertti Saloheimo, Juha Huhtakangas, Henrik Salminen, Seppo Juvela, Michaela K Bode, Matti Hillbom, Sami Tetri
OBJECTIVE: To identify the incidence and predisposing factors for development of poststroke epilepsy (PSE) after primary intracerebral hemorrhage (PICH) during a long-term follow-up. METHODS: We performed a retrospective study of patients who had had their first-ever PICH between January 1993 and January 2008 in Northern Ostrobothnia, Finland, and who survived for at least 3 months. These patients were followed up for PSE. The associations between PSE occurrence and sex, age, Glasgow Coma Scale (GCS) score on admission, hematoma location and volume, early seizures, and other possible risk factors for PSE were assessed using the Cox proportional hazards regression model...
June 6, 2017: Neurology
https://www.readbyqxmd.com/read/28436627/-temporal-lobe-epilepsy-and-adult-hippocampal-neurogenesis
#18
Liying Chen, Yi Wang, Zhong Chen
Temporal lobe epilepsy (TLE) is a common and severe neurological disorder which is often intractable. It can not only damage the normal structure and function of hippocampus, but also affect the neurogenesis in dentate gyrus (DG). It is well documented from researches on the animal models of TLE that after a latent period of several days, prolonged seizure activity leads to a dramatic increase in mitotic activity in the hippocampal DG. However, cell proliferation returns to baseline levels within 3-4 weeks after status epilepticus (SE)...
January 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/28428738/improved-localization-of-seizure-onset-zones-using-spatiotemporal-constraints-and-time-varying-source-connectivity
#19
Juan D Martinez-Vargas, Gregor Strobbe, Kristl Vonck, Pieter van Mierlo, German Castellanos-Dominguez
Presurgical evaluation of brain neural activity is commonly carried out in refractory epilepsy patients to delineate as accurately as possible the seizure onset zone (SOZ) before epilepsy surgery. In practice, any subjective interpretation of electroencephalographic (EEG) recordings is hindered mainly because of the highly stochastic behavior of the epileptic activity. We propose a new method for dynamic source connectivity analysis that aims to accurately localize the seizure onset zones by explicitly including temporal, spectral, and spatial information of the brain neural activity extracted from EEG recordings...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28427143/activity-induced-spontaneous-spikes-in-gabaergic-neurons-suppress-seizure-discharges-an-implication-of-computational-modeling
#20
Wei Lu, Jing Feng, Bo Wen, Kewei Wang, Jin-Hui Wang
BACKGROUND: Epilepsy, a prevalent neurological disorder, appears self-termination. The endogenous mechanism for seizure self-termination remains to be addressed in order to develop new strategies for epilepsy treatment. We aim to examine the role of activity-induced spontaneous spikes at GABAergic neurons as an endogenous mechanism in the seizure self-termination. METHODS AND RESULTS: Neuronal spikes were induced by depolarization pulses at cortical GABAergic neurons from temporal lobe epilepsy patients and mice, in which some of these neurons fired activity-induced spontaneous spikes...
May 16, 2017: Oncotarget
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