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Seminars in Neurology Dec 2020Seizures affect the lives of 10% of the global population and result in epilepsy in 1 to 2% of people around the world. Current knowledge about etiology, diagnosis, and... (Review)
Review
Seizures affect the lives of 10% of the global population and result in epilepsy in 1 to 2% of people around the world. Current knowledge about etiology, diagnosis, and treatments for epilepsy is constantly evolving. As more is learned, appropriate and updated definitions and classification systems for seizures and epilepsy are of the utmost importance. Without proper definitions and classification, many individuals will be improperly diagnosed and incorrectly treated. It is also essential for research purposes to have proper definitions, so that appropriate populations can be identified and studied. Imprecise definitions, failure to use accepted terminology, or inappropriate use of terminology hamper our ability to study and advance the field of epilepsy. This article begins by discussing the pathophysiology and epidemiology of epilepsy, and then covers the accepted contemporary definitions and classifications of seizures and epilepsies.
Topics: Epilepsy; Humans; Seizures
PubMed: 33155183
DOI: 10.1055/s-0040-1718719 -
Epilepsia Jun 2022The International League Against Epilepsy (ILAE) Task Force on Nosology and Definitions proposes a classification and definition of epilepsy syndromes in the neonate and...
The International League Against Epilepsy (ILAE) Task Force on Nosology and Definitions proposes a classification and definition of epilepsy syndromes in the neonate and infant with seizure onset up to 2 years of age. The incidence of epilepsy is high in this age group and epilepsy is frequently associated with significant comorbidities and mortality. The licensing of syndrome specific antiseizure medications following randomized controlled trials and the development of precision, gene-related therapies are two of the drivers defining the electroclinical phenotypes of syndromes with onset in infancy. The principal aim of this proposal, consistent with the 2017 ILAE Classification of the Epilepsies, is to support epilepsy diagnosis and emphasize the importance of classifying epilepsy in an individual both by syndrome and etiology. For each syndrome, we report epidemiology, clinical course, seizure types, electroencephalography (EEG), neuroimaging, genetics, and differential diagnosis. Syndromes are separated into self-limited syndromes, where there is likely to be spontaneous remission and developmental and epileptic encephalopathies, diseases where there is developmental impairment related to both the underlying etiology independent of epileptiform activity and the epileptic encephalopathy. The emerging class of etiology-specific epilepsy syndromes, where there is a specific etiology for the epilepsy that is associated with a clearly defined, relatively uniform, and distinct clinical phenotype in most affected individuals as well as consistent EEG, neuroimaging, and/or genetic correlates, is presented. The number of etiology-defined syndromes will continue to increase, and these newly described syndromes will in time be incorporated into this classification. The tables summarize mandatory features, cautionary alerts, and exclusionary features for the common syndromes. Guidance is given on the criteria for syndrome diagnosis in resource-limited regions where laboratory confirmation, including EEG, MRI, and genetic testing, might not be available.
Topics: Electroencephalography; Epilepsy; Epilepsy, Generalized; Epileptic Syndromes; Humans; Infant; Infant, Newborn; Seizures
PubMed: 35503712
DOI: 10.1111/epi.17239 -
Neuroepidemiology 2020Epilepsy is a chronic disease of the brain characterized by an enduring (i.e., persisting) predisposition to generate seizures, unprovoked by any immediate central... (Review)
Review
Epilepsy is a chronic disease of the brain characterized by an enduring (i.e., persisting) predisposition to generate seizures, unprovoked by any immediate central nervous system insult, and by the neurobiologic, cognitive, psychological, and social consequences of seizure recurrences. Epilepsy affects both sexes and all ages with worldwide distribution. The prevalence and the incidence of epilepsy are slightly higher in men compared to women and tend to peak in the elderly, reflecting the higher frequency of stroke, neurodegenerative diseases, and tumors in this age-group. Focal seizures are more common than generalized seizures both in children and in adults. The etiology of epilepsy varies according to the sociodemographic characteristics of the affected populations and the extent of the diagnostic workup, but a documented cause is still lacking in about 50% of cases from high-income countries (HIC). The overall prognosis of epilepsy is favorable in the majority of patients when measured by seizure freedom. Reports from low/middle-income countries (LMIC; where patients with epilepsy are largely untreated) give prevalence and remission rates that overlap those of HICs. As the incidence of epilepsy appears higher in most LMICs, the overlapping prevalence can be explained by misdiagnosis, acute symptomatic seizures and premature mortality. Studies have consistently shown that about one-half of cases tend to achieve prolonged seizure remission. However, more recent reports on the long-term prognosis of epilepsy have identified differing prognostic patterns, including early and late remission, a relapsing-remitting course, and even a worsening course (characterized by remission followed by relapse and unremitting seizures). Epilepsy per se carries a low mortality risk, but significant differences in mortality rates are expected when comparing incidence and prevalence studies, children and adults, and persons with idiopathic and symptomatic seizures. Sudden unexplained death is most frequent in people with generalized tonic-clonic seizures, nocturnal seizures, and drug refractory epilepsy.
Topics: Epilepsy; Humans; Sudden Unexpected Death in Epilepsy
PubMed: 31852003
DOI: 10.1159/000503831 -
Continuum (Minneapolis, Minn.) Apr 2022This article reviews the clinical features, typical EEG findings, treatment, prognosis, and underlying molecular etiologies of the more common genetic epilepsy... (Review)
Review
PURPOSE OF REVIEW
This article reviews the clinical features, typical EEG findings, treatment, prognosis, and underlying molecular etiologies of the more common genetic epilepsy syndromes. Genetic generalized epilepsy, self-limited focal epilepsy of childhood, self-limited neonatal and infantile epilepsy, select developmental and epileptic encephalopathies, progressive myoclonus epilepsies, sleep-related hypermotor epilepsy, photosensitive occipital lobe epilepsy, and focal epilepsy with auditory features are discussed. Also reviewed are two familial epilepsy syndromes: genetic epilepsy with febrile seizures plus and familial focal epilepsy with variable foci.
RECENT FINDINGS
Recent years have seen considerable advances in our understanding of the genetic factors underlying genetic epilepsy syndromes. New therapies are emerging for some of these conditions; in some cases, these precision medicine approaches may dramatically improve the prognosis.
SUMMARY
Many recognizable genetic epilepsy syndromes exist, the identification of which is a crucial skill for neurologists, particularly those who work with children. Proper diagnosis of the electroclinical syndrome allows for appropriate treatment choices and counseling regarding prognosis and possible comorbidities.
Topics: Child; Electroencephalography; Epilepsies, Partial; Epilepsy; Epileptic Syndromes; Humans; Infant, Newborn; Prognosis
PubMed: 35393962
DOI: 10.1212/CON.0000000000001077 -
Neurologic Clinics Aug 2021Epilepsy can now be diagnosed even in the presence of one unprovoked seizure or if the diagnosis of an epilepsy syndrome can be made. Epilepsy syndromes represent a... (Review)
Review
Epilepsy can now be diagnosed even in the presence of one unprovoked seizure or if the diagnosis of an epilepsy syndrome can be made. Epilepsy syndromes represent a specific set of seizure types and electroencephalographic and imaging features that tend to have age-dependent features, triggers, and prognosis. Epilepsy syndromes are the third and final level of epilepsy diagnosis, after classification of seizure and epilepsy types. Some epilepsy syndromes are self-limiting and pharmacoresponsive and others are pharmacoresistant and associated with poor developmental outcomes (epileptic and developmental encephalopathy). Features and management of 7 common age-dependent pediatric epilepsy syndromes are described.
Topics: Child; Electroencephalography; Epilepsy; Epileptic Syndromes; Humans; Prognosis
PubMed: 34215386
DOI: 10.1016/j.ncl.2021.04.002 -
Handbook of Clinical Neurology 2020Epilepsy is considered a disease characterized by an underlying predisposition to seizures as well as neurobiologic, cognitive, psychologic, and social consequences. It...
Epilepsy is considered a disease characterized by an underlying predisposition to seizures as well as neurobiologic, cognitive, psychologic, and social consequences. It is the most frequent chronic neurologic condition of childhood, affecting 0.5%-1% of children worldwide. It comprises a variety of disorders with many different etiologies, consequently affecting management and outcome. Although the great majority of children have epilepsies that are self-limited and have a good prognosis, it is nevertheless very well recognized that epileptic activity (be it seizures or interictal discharges) can be particularly deleterious to the developing brain acting as a disruptor to normal developmental function. Indeed, epilepsy and neurocognitive and behavioral disorders very frequently coexist, and it can be challenging to understand if there is causality or if they are all the reflection of the underlying brain disorder. Hence, accurate phenotypic and etiologic diagnosis is of utmost importance as it will not only guide decision making with regard to choice of treatment but also enable management of expectations concerning outcome. The current chapter aims to provide a general overview of the fast evolving and vast field of childhood epilepsy from its definition and epidemiology, to its diagnostic challenges, management, and outcome.
Topics: Brain; Electroencephalography; Epilepsy; Humans; Mental Disorders; Seizures
PubMed: 32977874
DOI: 10.1016/B978-0-444-64148-9.00011-9 -
Continuum (Minneapolis, Minn.) Apr 2022This article focuses on the evaluation of children and adults who present with new-onset seizures, with an emphasis on differential diagnosis, classification,... (Review)
Review
PURPOSE OF REVIEW
This article focuses on the evaluation of children and adults who present with new-onset seizures, with an emphasis on differential diagnosis, classification, evaluation, and management.
RECENT FINDINGS
New-onset seizures are a common presentation in neurologic practice, affecting approximately 8% to 10% of the population. Accurate diagnosis relies on a careful history to exclude nonepileptic paroxysmal events. A new classification system was accepted in 2017 by the International League Against Epilepsy, which evaluates seizure type(s), epilepsy type, epilepsy syndrome, etiology, and comorbidities. Accurate classification informs the choice of investigations, treatment, and prognosis. Guidelines for neuroimaging and laboratory and genetic testing are summarized.
SUMMARY
Accurate diagnosis and classification of first seizures and new-onset epilepsy are key to choosing optimal therapy to maximize seizure control and minimize comorbidities.
Topics: Adult; Child; Diagnosis, Differential; Epilepsy; Epileptic Syndromes; Humans; Neuroimaging; Seizures
PubMed: 35393959
DOI: 10.1212/CON.0000000000001074 -
Neurotherapeutics : the Journal of the... Jul 2019The field of autoimmune epilepsy has evolved substantially in the last few decades with discovery of several neural autoantibodies and improved mechanistic understanding... (Review)
Review
The field of autoimmune epilepsy has evolved substantially in the last few decades with discovery of several neural autoantibodies and improved mechanistic understanding of these immune-mediated syndromes. A considerable proportion of patients with epilepsy of unknown etiology have been demonstrated to have an autoimmune cause. The majority of the patients with autoimmune epilepsy usually present with new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction. Neural specific antibodies commonly associated with autoimmune epilepsy include leucine-rich glioma-inactivated protein 1 (LGI1), N-methyl-D-aspartate receptor (NMDA-R), and glutamic acid decarboxylase 65 (GAD65) IgG. Diagnosis of these cases depends on the identification of the clinical syndrome and ancillary studies including autoantibody evaluation. Predictive models (Antibody Prevalence in Epilepsy and Encephalopathy [APE2] and Response to Immunotherapy in Epilepsy and Encephalopathy [RITE2] scores) based on clinical features and initial neurological assessment may be utilized for selection of cases for autoimmune epilepsy evaluation and management. In this article, we will review the recent advances in autoimmune epilepsy and provide diagnostic and therapeutic algorithms for epilepsies with suspected autoimmune etiology.
Topics: Autoimmune Diseases of the Nervous System; Epilepsy; Humans; Immunotherapy
PubMed: 31240596
DOI: 10.1007/s13311-019-00750-3 -
The Lancet. Neurology Jun 2022CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised... (Review)
Review
CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. It is characterised by early-onset (generally within the first 2 months of life) seizures that are usually refractory to polypharmacy. Development is severely impaired in patients with CDD, with only a quarter of girls and a smaller proportion of boys achieving independent walking; however, there is clinical variability, which is probably genetically determined. Gastrointestinal, sleep, and musculoskeletal problems are common in CDD, as in other developmental epileptic encephalopathies, but the prevalence of cerebral visual impairment appears higher in CDD. Clinicians diagnosing infants with CDD need to be familiar with the complexities of this disorder to provide appropriate counselling to the patients' families. Despite some benefit from ketogenic diets and vagal nerve stimulation, there has been little evidence that conventional antiseizure medications or their combinations are helpful in CDD, but further treatment trials are finally underway.
Topics: Epilepsy; Epileptic Syndromes; Humans; Infant; Protein Serine-Threonine Kinases; Spasms, Infantile
PubMed: 35483386
DOI: 10.1016/S1474-4422(22)00035-7 -
Lancet (London, England) Jul 2023Epilepsy is a common medical condition that affects people of all ages, races, social classes, and geographical regions. Diagnosis of epilepsy remains clinical, and... (Review)
Review
Epilepsy is a common medical condition that affects people of all ages, races, social classes, and geographical regions. Diagnosis of epilepsy remains clinical, and ancillary investigations (electroencephalography, imaging, etc) are of aid to determine the type, cause, and prognosis. Antiseizure medications represent the mainstay of epilepsy treatment: they aim to suppress seizures without adverse events, but they do not affect the underlying predisposition to generate seizures. Currently available antiseizure medications are effective in around two-thirds of patients with epilepsy. Neurosurgical resection is an effective strategy to reach seizure control in selected individuals with drug-resistant focal epilepsy. Non-pharmacological treatments such as palliative surgery (eg, corpus callosotomy), neuromodulation techniques (eg, vagus nerve stimulation), and dietary interventions represent therapeutic options for patients with drug-resistant epilepsy who are not suitable for resective brain surgery.
Topics: Humans; Adult; Treatment Outcome; Epilepsy; Seizures; Drug Resistant Epilepsy; Prognosis
PubMed: 37459868
DOI: 10.1016/S0140-6736(23)01048-6