1,362 results match your criteria Epilepsy Juvenile Myoclonic


Electro-clinical analysis of epilepsy patients with generalized seizures on adjunctive perampanel treatment.

Epilepsy Res 2020 May 31;165:106378. Epub 2020 May 31.

Epilepsy Unit, Department of Clinical Neurophysiology, Lluis Alcanyis Hospital, Carretera Xátiva-Silla, Km 2, 46800, Xàtiva, Valencia, Spain.

Quantifying epileptiform discharges before and after the initiation of treatment can be useful for evaluating the efficacy of antiepileptic drugs in generalized epilepsy. The aim of this study was to determine if the selective α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor antagonist perampanel alters the electroencephalographic signals in patients with drug resistant generalized seizures (primary or secondary). We also assessed the clinical efficacy, safety and tolerability of perampanel as an adjunctive treatment for patients with refractory generalized seizures after 3, 6 and 12 months of treatment to determine if there is an electro-clinical correlation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2020.106378DOI Listing

Predictors of Outcome in Juvenile Myoclonic Epilepsy.

Risk Manag Healthc Policy 2020 19;13:609-613. Epub 2020 Jun 19.

Department of Neurology, Zhongshan Hospital, Xiamen University, Xiamen 361004, People's Republic of China.

Background: Juvenile myoclonic epilepsy (JME) is the most common idiopathic generalized epilepsy syndrome, accounting for 10% of all epilepsy. However, there is limited information regarding the predictors of seizure outcome. The aim of this study was to determine the predictors of seizure outcome in JME patients. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2147/RMHP.S244725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7311093PMC

Clinico-electrographic characteristics and classification of genetic generalized epilepsy in Oman.

Epilepsy Res 2020 Jun 5;166:106380. Epub 2020 Jun 5.

Neurology Unit, Department of Medicine, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

Purpose: There is a lack of information on the annual incidence of genetic generalized epilepsy (GGE) in the Arab countries, especially Oman. Ascertaining the true burden of illness has crucial implications for health policies and priorities. We aim to study the clinico-electrographic characteristics, classification, and annual incidence of GGE in Oman. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2020.106380DOI Listing

Motor hyperactivation during cognitive tasks: An endophenotype of juvenile myoclonic epilepsy.

Epilepsia 2020 Jun 25. Epub 2020 Jun 25.

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.

Objective: Juvenile myoclonic epilepsy (JME) is the most common genetic generalized epilepsy syndrome. Myoclonus may relate to motor system hyperexcitability and can be provoked by cognitive activities. To aid genetic mapping in complex neuropsychiatric disorders, recent research has utilized imaging intermediate phenotypes (endophenotypes). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.16575DOI Listing

Is topiramate effective and tolerated in young people with juvenile myoclonic epilepsy? A Cochrane Review summary with commentary.

Authors:
Sara Liguori

Dev Med Child Neurol 2020 Aug 17;62(8):895-896. Epub 2020 Jun 17.

Department of Medical and Surgical Specialties and Dentistry, University of Campania "Luigi Vanvitelli", Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.14598DOI Listing

Energy landscape of resting magnetoencephalography reveals fronto-parietal network impairments in epilepsy.

Netw Neurosci 2020 1;4(2):374-396. Epub 2020 Apr 1.

Cardiff University Brain Research Imaging Centre, School of Psychology, Cardiff University, United Kingdom.

Juvenile myoclonic epilepsy (JME) is a form of idiopathic generalized epilepsy. It is yet unclear to what extent JME leads to abnormal network activation patterns. Here, we characterized statistical regularities in magnetoencephalograph (MEG) resting-state networks and their differences between JME patients and controls by combining a pairwise maximum entropy model (pMEM) and novel energy landscape analyses for MEG. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1162/netn_a_00125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7286306PMC

Semiology of spontaneous generalized tonic-clonic seizures in the epileptic baboon.

Epilepsia Open 2020 Jun 20;5(2):213-219. Epub 2020 Mar 20.

South Texas Comprehensive Epilepsy Center San Antonio Texas.

Objective: The epileptic baboon provides an animal model for juvenile myoclonic epilepsy (JME), demonstrating spontaneous generalized tonic-clonic seizures (GTCS) in addition to generalized myoclonic, absence and multifocal seizures. While photoconvulsive responses have been described in this model, spontaneous GTCS have not been characterized.

Methods: In this study, we characterized 46 seizures in 7 epileptic baboons (5 females, 12 ± 3 years old) by video recording. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/epi4.12388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7278549PMC

Genetic generalized epilepsies with frontal lesions mimicking migratory disorders on the epilepsy monitoring unit.

Epilepsia Open 2020 Jun 12;5(2):176-189. Epub 2020 Mar 12.

Epilepsy Center Bethel Krankenhaus Mara Bielefeld Germany.

Objective: Some patients with genetic generalized epilepsy (GGE) may present with ambiguous and atypical findings and even focal brain abnormalities. Correct diagnosis may therefore be difficult.

Methods: We retrospectively collected six patients investigated on the epilepsy monitoring unit with MRI abnormalities mimicking focal cortical dysplasia (FCD-like) or heterotopias, but with semiology and EEG features of GGE. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/epi4.12385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7278548PMC

The Association Between Temperament Features And Childhood Traumas In Patients With Juvenile Myoclonic Epilepsy.

Turk J Med Sci 2020 Jun 9. Epub 2020 Jun 9.

Background/aim: Epilepsy is a common chronic neurological problem that impairs daily activities, functionality, and quality of life. Childhood traumas (CTs) are known to be critical factors in the onset or development of many psychiatric and medical disorders. They also play a critical role in the development of temperament and personality. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3906/sag-1912-18DOI Listing

[The effectiveness of antiepileptic therapy in patients with epileptic syndromes associated with myoclonic seizures].

Zh Nevrol Psikhiatr Im S S Korsakova 2020 ;120(4):51-59

Federal Center for Cerebrovascular Pathology and Stroke, Moscow, Russia.

Objective: To evaluate the effectiveness of antiepileptic therapy of epileptic syndromes associated with myoclonic seizures.

Material And Methods: One hundred and three patients with epilepsy, in whom myoclonic seizures were identified during the observation, were examined. The observed myoclonic seizures entered the structure of 11 different epileptic syndromes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.17116/jnevro202012004151DOI Listing
January 2020

Thalamic and cortical hyperexcitability in juvenile myoclonic epilepsy.

Clin Neurophysiol 2020 May 22. Epub 2020 May 22.

Neurology, Neurophysiology and Neurobiology Unit, Department of Medicine, Università Campus Bio-Medico di Roma, Rome, Italy.

Objectives: Juvenile myoclonic epilepsy (JME) is a genetic generalized epilepsy marked by cortical hyperexcitability. Recent neuroimaging data suggested also a thalamic role in sustaining epileptic propensity in JME. However, thalamic hyperexcitability was not demonstrated so far. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clinph.2020.04.164DOI Listing

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.

Epilepsia 2020 May 29;61(5):995-1007. Epub 2020 May 29.

Evelina London Children's Hospital, London, UK.

Objective: We aimed to describe the extent of neurodevelopmental impairments and identify the genetic etiologies in a large cohort of patients with epilepsy with myoclonic atonic seizures (MAE).

Methods: We deeply phenotyped MAE patients for epilepsy features, intellectual disability, autism spectrum disorder, and attention-deficit/hyperactivity disorder using standardized neuropsychological instruments. We performed exome analysis (whole exome sequencing) filtered on epilepsy and neuropsychiatric gene sets to identify genetic etiologies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.16508DOI Listing
May 2020
4.571 Impact Factor

The role of cortisol in trust behavior: Results from an experimental study on healthy controls and patients with juvenile myoclonic epilepsy.

Epilepsy Behav 2020 May 25;110:107138. Epub 2020 May 25.

Department of Neurology, Innsbruck Medical University, Anichstraße 35, 6020 Innsbruck, Austria. Electronic address:

Trust is one of the foundations of human society and pervades all aspects of human live. Research on humans focused primarily on identifying the biological basis of trust behavior in healthy subjects, and this evidence hints to certain brain areas, hormones, and genetic factors to be fundamentally involved. The contribution of cortisol in trust has not yet elicited much attention in research, especially when specifically examined at basal cortisol levels. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2020.107138DOI Listing

Juvenile myoclonic epilepsy shows increased posterior theta, and reduced sensorimotor beta resting connectivity.

Epilepsy Res 2020 Jul 2;163:106324. Epub 2020 Apr 2.

Cardiff University Brain Research Imaging, School of Psychology, Cardiff University, United Kingdom; The Wales Epilepsy Unit, Department of Neurology, University Hospital of Wales, Cardiff, United Kingdom. Electronic address:

Background: Widespread structural and functional brain network changes have been shown in Juvenile Myoclonic Epilepsy (JME) despite normal clinical neuroimaging. We sought to better define these changes using magnetoencephalography (MEG) and source space connectivity analysis for optimal neurophysiological and anatomical localisation.

Methods: We consecutively recruited 26 patients with JME who underwent resting state MEG recording, along with 26 age-and-sex matched controls. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2020.106324DOI Listing

A familial t(4;8) translocation segregates with epilepsy and migraine with aura.

Ann Clin Transl Neurol 2020 05 21;7(5):855-859. Epub 2020 Apr 21.

Institute of Neurology, University Magna Graecia, Catanzaro, Italy.

Three relatives carrying a t(4;8)(p15.2;p23.2) translocation had juvenile myoclonic epilepsy, self-limited photosensitive occipital epilepsy and migraine with aura. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/acn3.51040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261755PMC

Rhythmic Network Modulation to Thalamocortical Couplings in Epilepsy.

Int J Neural Syst 2020 Apr 18:2050014. Epub 2020 Apr 18.

The Clinical Hospital of Chengdu Brain Science Institute, MOE Key Lab for Neuroinformation, High-Field Magnetic Resonance Brain Imaging Key Laboratory of Sichuan Province, University of Electronic Science and Technology of China, Chengdu 610054, P. R. China.

Thalamus interacts with cortical areas, generating oscillations characterized by their rhythm and levels of synchrony. However, little is known of what function the rhythmic dynamic may serve in thalamocortical couplings. This work introduced a general approach to investigate the modulatory contribution of rhythmic scalp network to the thalamo-frontal couplings in juvenile myoclonic epilepsy (JME) and frontal lobe epilepsy (FLE). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1142/S0129065720500148DOI Listing

Late-onset idiopathic (genetic) generalized epilepsies: Clinical and EEG findings.

J Clin Neurosci 2020 Jun 15;76:58-60. Epub 2020 Apr 15.

Epilepsy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address:

Purpose: We investigated the occurrence and clinical characteristics of late-onset idiopathic generalized epilepsies (IGEs). We also provided a statistically meaningful definition for late-onset IGE in this large cohort of patients.

Methods: In this cross-sectional retrospective chart review study, all patients with a clinical diagnosis of IGE were recruited at the outpatient epilepsy clinic at Shiraz University of Medical Sciences from 2008 until 2019. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jocn.2020.04.049DOI Listing

Early Parkinsonism in a Senegalese girl with Lafora disease.

Epileptic Disord 2020 Apr;22(2):233-236

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milano.

We report the atypical presentation of Lafora disease in a Senegalese girl carrying the homozygous variant, c.560A>C, in the NHLRC1 gene. At 13 years, the patient developed myoclonic and visual seizures, progressive psychomotor slowing, and cognitive decline. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/epd.2020.1150DOI Listing
April 2020
0.899 Impact Factor

Developmental decrease in parvalbumin-positive neurons precedes increase in flurothyl-induced seizure susceptibility in the Brd2 mouse model of juvenile myoclonic epilepsy.

Epilepsia 2020 May 17;61(5):892-902. Epub 2020 Apr 17.

Department of Cell Biology and Anatomy, New York Medical College, Valhalla, New York.

Objective: BRD2 is a human gene repeatedly linked to and associated with juvenile myoclonic epilepsy (JME). Here, we define the developmental stage when increased seizure susceptibility first manifests in heterozygous Brd2+/- mice, an animal model of JME. We wanted to determine (1) whether seizure susceptibility correlates with the proven decrease of γ-aminobutyric acidergic (GABAergic) neuron numbers and (2) whether the seizure phenotype can be affected by sex hormones. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.16499DOI Listing

Meta-analysis of response inhibition in juvenile myoclonic epilepsy.

Epilepsy Behav 2020 May 30;106:107038. Epub 2020 Mar 30.

Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom; MRC Centre for Neurodevelopmental Disorders, King's College London, London, United Kingdom; King's College Hospital, London, United Kingdom; Evelina London Children's Hospital, London, United Kingdom. Electronic address:

Background: Patients with juvenile myoclonic epilepsy (JME) show evidence of cognitive impulsivity that may be linked to later adverse psychosocial outcomes. Here, we quantify the strength of association and estimate effect size (ES) of response inhibition by pooling available evidence in a meta-analysis.

Methods: We conducted a systematic review of the literature using Ovid MEDLINE and Ovid EMBASE databases (covering 2001-2019) with a search strategy using combinations of the specific Medical Subject Headings (MeSH) terms 'juvenile myoclonic epilepsy, cognitive impulsivity, response inhibition, Stroop, cognition, personality, traits' using the 'explode' feature where possible. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2020.107038DOI Listing

Cognitive Function in Genetic Generalized Epilepsies: Insights From Neuropsychology and Neuroimaging.

Front Neurol 2020 10;11:144. Epub 2020 Mar 10.

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.

Genetic generalized epilepsies (GGE), previously called idiopathic generalized epilepsies, constitute about 20% of all epilepsies, and include childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures alone (CAE, JAE, JME, and GGE-GTCS, respectively). GGE are characterized by high heritability, likely underlain by polygenetic mechanisms, which may relate to atypical neurodevelopmental trajectories. Age of onset ranges from pre-school years, for CAE, to early adulthood for GGE-GTCS. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fneur.2020.00144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7076110PMC

Cognitive functioning in new-onset juvenile myoclonic epilepsy.

Epilepsy Behav 2020 May 14;106:107015. Epub 2020 Mar 14.

Epilepsy Center, Neuro Center, Kuopio University Hospital, Member of the European Reference Network EpiCARE, Kuopio, Finland.

Purpose: Juvenile myoclonic epilepsy (JME) is a common genetic generalized epilepsy syndrome. Adult patients with JME have shown a neuropsychological profile suggestive of subtle frontal dysfunction, but studies of cognitive functioning in the early phases of JME are rare. We analyzed the cognitive performance data of 18 patients who had undergone a neuropsychological assessment either at the time of JME diagnosis and before the initiation of an antiepileptic drug (AED) treatment (11 patients) or during the first 6 years after JME diagnosis (seven patients). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2020.107015DOI Listing

Functional Alterations in Ciliogenesis-Associated Kinase 1 (CILK1) that Result from Mutations Linked to Juvenile Myoclonic Epilepsy.

Cells 2020 Mar 12;9(3). Epub 2020 Mar 12.

Department of Pharmacology, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.

Ciliopathies are a group of human genetic disorders associated with mutations that give rise to the dysfunction of primary cilia. Ciliogenesis-associated kinase 1 (CILK1), formerly known as intestinal cell kinase (ICK), is a conserved serine and threonine kinase that restricts primary (non-motile) cilia formation and length. Mutations in CILK1 are associated with ciliopathies and are also linked to juvenile myoclonic epilepsy (JME). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/cells9030694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140639PMC

[Juvenile myoclonic epilepsy: long-term prognosis and antiepileptic drug withdrawal].

An Sist Sanit Navar 2020 Apr 20;43(1):43-49. Epub 2020 Apr 20.

Servicio de Neurología Hospital General de la Defensa Vía Ibérica, 1 50009 Zaragoza.

Background: Juvenile myoclonic epilepsy (JME) is a classic epileptic syndrome that lacks consensus on the possibility of suspending treatment with antiepileptic drugs (AD).

Method: Retrospective observational study of a series of patients diagnosed with JME with 20 years or more of evolution, focusing on those with withdrawal from AD.

Results: The study involved twenty patients (average age 44. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.23938/ASSN.0756DOI Listing

Dysfunctional personality beliefs and executive performance in patients with juvenile myoclonic epilepsy.

Epilepsy Behav 2020 Apr 22;105:106958. Epub 2020 Feb 22.

Unidade de Pesquisa e Tratamento das Epilepsias (UNIPETE), Unifesp, São Paulo, SP, Brazil. Electronic address:

Background: This article intends to verify the association of dysfunctional beliefs of personality disorders with the executive performance in people with juvenile myoclonic epilepsy (JME).

Methods: Fifty-two patients (35 women, 67.3%) with JME aged 18-50 yrs. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2020.106958DOI Listing

Juvenile myoclonic epilepsy mimic associated with CHD2 gene mutation.

Epilepsy Behav Rep 2020 7;13:100355. Epub 2020 Jan 7.

Department of Neurology, Mayo Clinic Florida, United States of America.

This paper reports the electroclinical manifestations of an epilepsy syndrome associated with a chromodomain helicase DNA-binding protein 2 (CHD2) gene mutation with clinical semiology and electroencephalographic (EEG) features consistent with juvenile myoclonic epilepsy (JME). Myoclonic and myoclonic-tonic-clonic seizures, as well as generalized 4- to 5-Hz high-amplitude spike-wave and polyspike-wave discharges, were well characterized in an adolescent. However, the atypical age of onset, developmental disability, and apparent drug resistance led to suspicion of an alternative etiology for epilepsy, subsequently verified as a CHD2 gene mutation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ebr.2019.100355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976925PMC
January 2020

Pharmacological Management of the Genetic Generalised Epilepsies in Adolescents and Adults.

CNS Drugs 2020 Feb;34(2):147-161

Scottish Epilepsy Initiative, Glasgow, UK.

Common genetic generalised epilepsy syndromes encountered by clinicians include childhood and juvenile absence epilepsies, juvenile myoclonic epilepsy and generalised tonic-clonic seizures on awakening. Treatment of these syndromes involves largely the use of broad-spectrum antiseizure drugs. Those effective for the generalised epilepsies include sodium valproate, phenobarbital, ethosuximide, clobazam, clonazepam, lamotrigine, levetiracetam, topiramate, zonisamide and, more recently, perampanel and brivaracetam. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s40263-020-00698-5DOI Listing
February 2020

Subcortical gray matter changes in pediatric patients with new-onset juvenile myoclonic epilepsy.

Epilepsy Behav 2020 Mar 11;104(Pt A):106860. Epub 2020 Jan 11.

Department of Pediatric Neurology, Ankara Children's Hematology-Oncology Training and Research Hospital, Ankara, Turkey.

Objective: The objective of the study was to identify the relationship between subcortical gray matter (GM) volumes and juvenile myoclonic epilepsy (JME).

Methods: We analyzed the brain magnetic resonance imaging (MRI) scans that were performed during the time of the diagnosis of epilepsy by using voxel-based morphometry (VBM) method. The volumetric three-dimensional sequence was used for structural investigation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2019.106860DOI Listing

Social impairment and stigma in genetic generalized epilepsies.

Epilepsy Behav 2020 Mar 11;104(Pt A):106886. Epub 2020 Jan 11.

Serviço de Neurologia, Departamento de Neurociências, Hospital de Santo António, Centro Hospitalar Universitário do Porto, Largo do Prof. Abel Salazar, 4099-001 Porto, Portugal; UMIB - Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Rua Jorge Viterbo Ferreira, 228, 4050-313 Porto, Portugal.

Introduction: Patients with epilepsy have poor social outcome. Multifactorial factors are usually involved, but among them, stigma features may have an important role. Genetic generalized epilepsies (GGEs) were previously considered "benign" syndromes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2019.106886DOI Listing

Default mode network dysfunction in idiopathic generalised epilepsy.

Epilepsy Res 2020 Jan 9;159:106254. Epub 2019 Dec 9.

Melbourne School of Psychological Sciences, The University of Melbourne, Parkville, VIC 3010, Australia; Department of Medicine, St Vincent's Hospital, The University of Melbourne, 41 Victoria Parade, Fitzroy, VIC 3065, Australia.

In order for fMRI findings to be valid and replicable, they must first adhere to quality standardisation. Currently, fMRI literature investigating idiopathic generalised epilepsy is heterogeneous in terms of design, acquisition, processing, and analysis. The present study reported the quality, methods, and functional connectivity findings of fMRI research investigating idiopathic generalised epilepsies, targeting studies that best represent valid and replicable methodologies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2019.106254DOI Listing
January 2020

Epidemiology and outcome of idiopathic generalized epilepsy in adults.

Eur J Neurol 2020 Apr 3;27(4):676-684. Epub 2020 Jan 3.

Department of Neurology, Odense University Hospital, Odense, Denmark.

Background And Purpose: Drug-resistant idiopathic generalized epilepsy (IGE) remains challenging despite a favourable overall prognosis of IGE, and little is known about basic epidemiology and long-term outcome of drug-resistant IGE. The aim of the study was to describe the incidence, prevalence and outcome of IGE in an unbiased, population-based cohort.

Methods: In 2014-2018, all patients (≥17 years) with IGE inhabiting the island of Funen (496 000 inhabitants) were recruited. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ene.14142DOI Listing

Doing without valproate in women of childbearing potential with idiopathic generalized epilepsy: Implications on seizure outcome.

Epilepsia 2020 01 11;61(1):107-114. Epub 2019 Dec 11.

Epilepsy Unit, Department of Human Neurosciences, Policlinico "Umberto I", "Sapienza" University, Rome, Italy.

Objective: Valproate (VPA) use in women with idiopathic generalized epilepsy (IGE) who are of reproductive age has been a matter of concern and debate, which eventually led to the recent restrictions by regulatory agencies. The aim of our study was to investigate the relationship between VPA avoidance/switch and seizure outcome in women of childbearing potential.

Methods: We retrospectively reviewed data from female patients with IGE, 13-50 years of age, followed since 1980. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.16407DOI Listing
January 2020
5 Reads
4.571 Impact Factor

Praxis induction and its relationship with cognition in genetic generalized epilepsy.

Epilepsy Behav 2020 01 2;102:106638. Epub 2019 Dec 2.

Unidad de Epilepsia, Hospital Clínico San Carlos, Calle Profesor Martín Lagos s/n, 28040 Madrid, Spain; Programa de Epilepsia Hospital Ruber Internacional, Madrid, Spain.

Introduction: Praxis induction (PI) is a reflex trait defined as the precipitation of epileptic discharges (ED) or seizures by cognition-guided tasks that often involve visuomotor coordination and decision-making. This is a characteristic of genetic generalized epilepsy (GGE), and especially of juvenile myoclonic epilepsy (JME). Additionally, several studies have described dysexecutive traits in these patients. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2019.106638DOI Listing
January 2020

[Clinical and psychosocial factors associated with seizure control in patients with juvenile myoclonic epilepsy].

Rev Neurol 2019 Dec;69(11):453-460

Instituto Neurológico de Colombia, Medellín, Colombia.

Aim: To identify the clinical and psychosocial factors of a Colombian cohort of patients with juvenile myoclonic epilepsy and its relation to crisis control.

Patients And Methods: Retrospective cohort study of patients over 14 years of age with a diagnosis of juvenile myoclonic epilepsy, with 12 months of follow-up in an epilepsy program, where the sociodemographic and clinical characteristics and the survey for the assessment of relapse conditioners. A bivariate and multivariate analysis was performed using binary logistic regression. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.33588/rn.6911.2019305DOI Listing
December 2019

The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy.

Mov Disord 2019 12 21;34(12):1919-1924. Epub 2019 Nov 21.

Regional Neurogenetic Center (CRN), ASP Catanzaro, Lamezia Terme, Italy.

Background: Dentatorubral-pallidoluysian atrophy is a hereditary neurodegenerative disease prevalently reported in Japan but rare in Caucasians. The objective of this study was to reconstruct the pedigree of Italian dentatorubral-pallidoluysian atrophy familial cases describing their clinical features.

Methods: We investigated 6 apparently unrelated dentatorubral-pallidoluysian atrophy families comprising a total of 51 affected individuals: 13 patients were clinically examined, and for 38 patients clinical data were collected from clinical sources. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.27879DOI Listing
December 2019

Thalamic nuclei volumes and network in juvenile myoclonic epilepsy.

Acta Neurol Scand 2020 Apr 6;141(4):271-278. Epub 2019 Dec 6.

Department of Neurology, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea.

Objective: The aim of this study was to investigate the alterations of thalamic nuclei volumes and intrinsic thalamic networks in patients with juvenile myoclonic epilepsy (JME) compared to healthy controls.

Methods: We enrolled 50 patients with JME and 42 healthy controls. We obtained structural volumes of the individual thalamic nuclei based on T1-weighted imaging and performed intrinsic thalamic network analysis using graph theoretical analysis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ane.13198DOI Listing

Efficacy, retention, and safety of brivaracetam in adult patients with genetic generalized epilepsy.

Epilepsy Behav 2020 01 12;102:106657. Epub 2019 Nov 12.

Epilepsy Unit, Neurology Department, Hospital Vall d'Hebron, Department of Medicine, Universitat Autònoma de Barcelona, Pg. Vall d'Hebron, 119-129, 08035 Barcelona, Spain. Electronic address:

Objective: The aim of this study was to evaluate the efficacy, tolerability, and retention of brivaracetam (BRV) in genetic generalized epilepsy (GGE) in real-life practice.

Methods: This is a retrospective cohort study of adult patients with GGE in whom BRV was started between 2016 and 2018, completing a follow-up period of ≥6 months. Clinical and electroencephalogram (EEG) characteristics were analyzed at baseline and at follow-up as outcome measures. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2019.106657DOI Listing
January 2020

Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes.

Neurol Sci 2020 Mar 13;41(3):591-598. Epub 2019 Nov 13.

Genetics and Molecular Biology, Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia.

Introduction: Genetic (idiopathic) generalized epilepsy (GGE) is a common form of epilepsy characterized by unknown aetiology and a presence of genetic component in its predisposition.

Methods: To understand the genetic factor in a family with GGE, we performed whole exome sequencing (WES) on a trio of a juvenile myoclonic epilepsy/febrile seizure (JME/FS) proband with JME/FS mother and healthy father. Sanger sequencing was carried out for validation of WES results and variant detection in other family members. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-019-04122-9DOI Listing

Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy.

Arch Iran Med 2019 09 1;22(9):516-526. Epub 2019 Sep 1.

Department of Pathology, Ayatollah Taleghani Educational Hospital, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

The genetic generalized epilepsies (GGEs) are a set of disorders presenting with generalized seizures, in addition to general spike-wave activity. The present study aims to investigate the clinical manifestations and genetic origin of generalized tonicclonic seizures and the subgroups of GGEs, including childhood absence epilepsy (CAE), juvenile absence epilepsy, and juvenile myoclonic epilepsy (JME). Information compiled from genome-wide association studies (GWASs) in the EPICure project revealed associations with many genes. Read More

View Article

Download full-text PDF

Source
September 2019

Dissociation between decision making under ambiguity and risk in patients with juvenile myoclonic epilepsy.

Epilepsy Behav 2019 12 31;101(Pt A):106548. Epub 2019 Oct 31.

Laboratory of Clinical Neurophysiology, Department of Psychiatry, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP), São Paulo, SP, Brazil. Electronic address:

Introduction: Decision making (DM) is one aspect of impulsivity that can be defined by the ability to decide between two or more options in a given situation. To date, there are at least two types of DM that differ in the level of uncertainty, and how much information about consequences is provided. In this study, we aimed to evaluate the two domains of DM - under risk and ambiguous - with a comprehensive evaluation in a group of patients with juvenile myoclonic epilepsy (JME), and correlate with patients' characteristics, clinical variables, and neuropsychological evaluation for executive functions. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2019.106548DOI Listing
December 2019

Levetiracetam in genetic generalized epilepsy: A prospective unblinded active-controlled trial.

Epilepsy Res 2019 11 3;157:106214. Epub 2019 Oct 3.

Gastrointestinal Cancer Research Center, Mazandaran University of Medical Sciences, Sari, Iran.

Purpose: To compare the efficacy and tolerability of levetiracetam (LEV) versus valproate (VPA) monotherapy in adults with genetic generalized tonic-clonic seizures alone (GTCS) and juvenile myoclonic epilepsy (JME).

Methods: This study was an open-label, active-controlled trial with a two-parallel-group design. Outcome measures including withdrawal rate and seizure freedom rate at 26th weeks and time to withdrawal, and time to first seizure were compared between LEV and VPA groups. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2019.106214DOI Listing
November 2019
4 Reads
2.015 Impact Factor

[Pathomorphosis of idiopathic generalized epilepsies].

Authors:
A S Kotov

Zh Nevrol Psikhiatr Im S S Korsakova 2019 ;119(9):7-11

Moscow Regional Research and Clinical Institute, Moscow, Russia.

Aim: To study the pathomorphosis of idiopathic generalized epilepsies (IGE) in a large population of adult patients with long-term follow-up.

Material And Methods: The study involved 1480 patients with epilepsy, including 281 patients with IGE.

Results: In 26 patients with childhood absence epilepsy (CAE), age-related changes in disease course have been particularly pronounced. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.17116/jnevro20191190917DOI Listing
February 2020
1 Read

Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy.

Front Cell Neurosci 2019 27;13:433. Epub 2019 Sep 27.

GIGA-Stem Cells, University of Liège, Liège, Belgium.

Juvenile myoclonic epilepsy (JME), a lifelong disorder that starts during adolescence, is the most common of genetic generalized epilepsy syndromes. JME is characterized by awakening myoclonic jerks and myoclonic-tonic-clonic (m-t-c) grand mal convulsions. Unfortunately, one third of JME patients have drug refractory m-t-c convulsions and these recur in 70-80% who attempt to stop antiepileptic drugs (AEDs). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fncel.2019.00433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6776584PMC
September 2019
5 Reads

Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy.

Front Neurol 2019 10;10:946. Epub 2019 Sep 10.

Center for Personalized Translational Epilepsy Research (CePTER), Frankfurt am Main, Germany.

Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome characterized by bilateral myoclonic and tonic-clonic seizures typically starting in adolescence and responding well to medication. Misdiagnosis of a more severe progressive myoclonus epilepsy (PME) as JME has been suggested as a cause of drug-resistance. Medical records of the Epilepsy Center Hessen-Marburg between 2005 and 2014 were automatically selected using keywords and manually reviewed regarding the presence of a JME diagnosis at any timepoint. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fneur.2019.00946DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6746890PMC
September 2019
2 Reads

Risk factors for recurrence after drug withdrawal in childhood epilepsy.

Brain Dev 2020 Jan 11;42(1):35-40. Epub 2019 Sep 11.

Department of Pediatric Neurology, Ankara Children's Hospital Hematology-Oncology Research and Training Hospital, Ankara, Turkey.

Background: Several studies have been conducted to determine the risk of recurrence after withdrawal of antiepileptic drugs (AEDs) in recent years. There is no consensus concerning the circumstances affecting discontinuation of AEDs. This study was designed to determine the recurrence rate of epilepsy after withdrawal of AEDs and the risk factors related with recurrence. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03877604193026
Publisher Site
http://dx.doi.org/10.1016/j.braindev.2019.08.012DOI Listing
January 2020
3 Reads

The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.

Seizure 2019 Oct 23;71:247-257. Epub 2019 Aug 23.

Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'G. Gaslini', Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.

Progressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders characterised by myoclonus, generalized epilepsy, and neurological deterioration, including dementia and ataxia. PMEs may have infancy, childhood, juvenile or adult onset, but usually present in late childhood or adolescence, at variance from epileptic encephalopathies, which start with polymorphic seizures in early infancy. Neurophysiologic recordings are suited to describe faithfully the time course of the shock-like muscle contractions which characterize myoclonus. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.seizure.2019.08.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288863PMC
October 2019
2 Reads

Developmental MRI markers cosegregate juvenile patients with myoclonic epilepsy and their healthy siblings.

Neurology 2019 09 29;93(13):e1272-e1280. Epub 2019 Aug 29.

From the Neuroimaging of Epilepsy Laboratory (B.W., S.-J.H., B.C.B., F.F., N.B., A.B.), McConnell Brain Imaging Center, Montreal Neurological Institute, McGill University, Montreal; Department of Clinical and Experimental Epilepsy (B.W., C.V., M.J.K.), UCL Institute of Neurology, London, UK; Epilepsy Center, Department of Neurology (C.V.), Klinikum Großhadern, University of Munich, Germany; and Multimodal Imaging and Connectome Analysis Lab (B.C.B.), Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada.

Objective: MRI studies of genetic generalized epilepsies have mainly described group-level changes between patients and healthy controls. To determine the endophenotypic potential of structural MRI in juvenile myoclonic epilepsy (JME), we examined MRI-based cortical morphologic markers in patients and their healthy siblings.

Methods: In this prospective, cross-sectional study, we obtained 3T MRI in patients with JME, siblings, and controls. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000008173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011863PMC
September 2019
2 Reads