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Current Opinion in Neurology Apr 2023In this review, we aim to analyse the progress in understanding the genetic basis of the epilepsies, as well as ongoing efforts to define the increasingly diverse and... (Review)
Review
PURPOSE OF REVIEW
In this review, we aim to analyse the progress in understanding the genetic basis of the epilepsies, as well as ongoing efforts to define the increasingly diverse and novel presentations, phenotypes and divergences from the expected that have continually characterized the field.
RECENT FINDINGS
A genetic workup is now considered to be standard of care for individuals with an unexplained epilepsy, due to mounting evidence that genetic diagnoses significantly influence treatment choices, prognostication, community support, and increasingly, access to clinical trials. As more individuals with epilepsy are tested, novel presentations of known epilepsy genes are being discovered, and more individuals with self-limited epilepsy are able to attain genetic diagnoses. In addition, new genes causative of epilepsy are being uncovered through both traditional and novel methods, including large international data-sharing collaborations and massive sequencing efforts as well as computational methods and analyses driven by the Human Phenotype Ontology (HPO).
SUMMARY
New approaches to gene discovery and characterization are advancing rapidly our understanding of the genetic and phenotypic architecture of the epilepsies. This review highlights relevant and groundbreaking studies published recently that have pushed forward the field of epilepsy genetics.
Topics: Humans; Epilepsy; Phenotype
PubMed: 36762645
DOI: 10.1097/WCO.0000000000001141 -
Epilepsia Open Mar 2022Dravet syndrome (DS) is a severe, rare, and complex developmental and epileptic encephalopathy affecting 1 in 16 000 live births and characterized by a drug-resistant... (Review)
Review
Dravet syndrome (DS) is a severe, rare, and complex developmental and epileptic encephalopathy affecting 1 in 16 000 live births and characterized by a drug-resistant epilepsy, cognitive, psychomotor, and language impairment, and behavioral disorders. Evidence suggests that optimal treatment of seizures in DS may improve outcomes, even though neurodevelopmental impairments are the likely result of both the underlying genetic variant and the epilepsy. We present an updated guideline for DS diagnosis and treatment, taking into consideration care of the adult patient and nonpharmaceutical therapeutic options for this disease. This up-to-date guideline, which is based on an extensive review of the literature and culminates with a new treatment algorithm for DS, is a European consensus developed through a survey involving 29 European clinical experts in DS. This guideline will serve professionals in their clinical practice and, as a consequence, will benefit DS patients and their families.
Topics: Adult; Epilepsies, Myoclonic; Epilepsy; Epileptic Syndromes; Europe; Humans; Infant; Spasms, Infantile
PubMed: 34882995
DOI: 10.1002/epi4.12569 -
Epileptic Disorders : International... Oct 2019At the time of the first meeting of the International League Against Epilepsy (ILAE) in 1909, surgical treatment for epilepsy had been accepted as an alternative therapy...
At the time of the first meeting of the International League Against Epilepsy (ILAE) in 1909, surgical treatment for epilepsy had been accepted as an alternative therapy for over two decades, but was rarely practiced, considered a last resort for carefully selected patients. Localization was based on ictal semiology and identification of a structural lesion. Very few papers on epilepsy surgery were presented at ILAE meetings or published in Epilepsia during the first half of the 20 century. A modest explosion in interest in epilepsy surgery at mid-century resulted from recognition that "invisible" epileptogenic lesions could be identified by EEG, especially for temporal lobe epilepsy. Epilepsy surgery received a second boost in popularity toward the end of the 20 century with the advent of structural and functional neuroimaging, and the number of epilepsy centers worldwide doubled between the first Palm Desert conference in 1986 and the second Palm Desert conference in 1992. Neuroimaging also helped to increase application of surgical treatment to infants and young children with severe epilepsies. Epilepsy surgery was accepted as standard of care for drug-resistant focal epilepsy and was well-represented at international ILAE congresses and in Epilepsia. Advances continue into the 21 century with the introduction of laser ablation, and palliative neuromodulation approaches, which have greatly increased the population of patients who can benefit from surgery. Modern presurgical evaluation techniques have also made surgical treatment possible in many countries with limited resources. Three randomized control trials now have definitively proved the safety and efficacy of epilepsy surgery, however, this alternative therapy remains under-utilized even in the industrialized world, where less than 1% of potential candidates are being referred to epilepsy centers. Furthermore, those who are referred receive surgery an average of 20 years after onset of epilepsy, often too late to avoid irreversible disability. The major challenges in realizing the full potential of epilepsy surgery, therefore, are not as much in the continued improvement of the treatment itself, as they are in addressing the treatment gap that is preventing appropriate patients from being referred to full-service epilepsy centers.
Topics: Drug Resistant Epilepsy; Electroencephalography; Epilepsies, Partial; Epilepsy; Epilepsy, Temporal Lobe; History, 20th Century; Humans; Neurosurgical Procedures
PubMed: 31708489
DOI: 10.1684/epd.2019.1091 -
Epilepsia Jun 2022Epilepsy syndromes have been recognized for >50 years, as distinct electroclinical phenotypes with therapeutic and prognostic implications. Nonetheless, no formally...
Epilepsy syndromes have been recognized for >50 years, as distinct electroclinical phenotypes with therapeutic and prognostic implications. Nonetheless, no formally accepted International League Against Epilepsy (ILAE) classification of epilepsy syndromes has existed. The ILAE Task Force on Nosology and Definitions was established to reach consensus regarding which entities fulfilled criteria for an epilepsy syndrome and to provide definitions for each syndrome. We defined an epilepsy syndrome as "a characteristic cluster of clinical and electroencephalographic features, often supported by specific etiological findings (structural, genetic, metabolic, immune, and infectious)." The diagnosis of a syndrome in an individual with epilepsy frequently carries prognostic and treatment implications. Syndromes often have age-dependent presentations and a range of specific comorbidities. This paper describes the guiding principles and process for syndrome identification in both children and adults, and the template of clinical data included for each syndrome. We divided syndromes into typical age at onset, and further characterized them based on seizure and epilepsy types and association with developmental and/or epileptic encephalopathy or progressive neurological deterioration. Definitions for each specific syndrome are contained within the corresponding position papers.
Topics: Electroencephalography; Epilepsy; Epilepsy, Generalized; Epileptic Syndromes; Humans; Seizures
PubMed: 35503715
DOI: 10.1111/epi.17237 -
Neuropediatrics Apr 2021
Topics: Child; Epilepsy; Humans; Neurology; Pediatrics
PubMed: 33742431
DOI: 10.1055/s-0041-1726339 -
Arquivos de Neuro-psiquiatria May 2022Vestibular migraine (VM) remains an underdiagnosed condition, often mistaken with brainstem aura. VM is defined by recurrent vestibular symptoms in at least 50% of...
Vestibular migraine (VM) remains an underdiagnosed condition, often mistaken with brainstem aura. VM is defined by recurrent vestibular symptoms in at least 50% of migraine attacks. Diagnosis is established by clinical criteria based on the International Classification of Headache Disorders (ICHD-3). Estimated prevalence of VM is 1 to 2.7% of the adult population. Vestibular symptoms usually appear after the headache. VM pathophysiology remains poorly understood. Vertigo may occur before, during, after the migraine attack, or even independently, and may last seconds to hours or days. Pathophysiological mechanisms for VM are still poorly understood and are usually extrapolated from migraines. Differential diagnoses include Ménière's disease, benign paroxysmal positional vertigo, brainstem aura, transient ischemic attack, persistent perceptual postural vertigo, and episodic type 2 ataxia. Specific treatment recommendations for vestibular migraine are still scarce.
Topics: Adult; Benign Paroxysmal Positional Vertigo; Diagnosis, Differential; Epilepsy; Humans; Migraine Disorders
PubMed: 35976301
DOI: 10.1590/0004-282X-ANP-2022-S111 -
Current Neurology and Neuroscience... Aug 2022Epilepsy has a bidirectional association with suicidality, and epilepsy patients are at much higher risk for suicide than the general population. This article reviews... (Review)
Review
PURPOSE OF REVIEW
Epilepsy has a bidirectional association with suicidality, and epilepsy patients are at much higher risk for suicide than the general population. This article reviews the recent literature on suicide risk factors, assessments, and management as they pertain specifically to suicidality in people with epilepsy, a population that requires unique considerations.
RECENT FINDINGS
Risk factors for suicidality include younger age (independent of comorbid psychiatric disorders), poor social support, psychiatric comorbidity (depression, anxiety, obsessive-compulsive symptoms, and alcohol use), and epilepsy-related factors (more frequent seizures, temporal lobe epilepsy, and drug-resistant epilepsy). Most clinicians agree with the need for addressing suicidality; however, there is inconsistency in the approach to caring for these patients. An example neurology clinic-based approach is outlined. Although PWE are at risk for suicide and risk factors have been characterized, care gaps remain. Screening strategies may help close these gaps.
Topics: Anxiety; Comorbidity; Epilepsy; Humans; Seizures; Suicide
PubMed: 35713774
DOI: 10.1007/s11910-022-01206-6 -
Seizure Dec 2020Three decades after its introduction as an adjuvant therapeutic option in the management of selective drug-resistant epilepsy cases (DRE), vagus nerve stimulation (VNS)... (Review)
Review
Three decades after its introduction as an adjuvant therapeutic option in the management of selective drug-resistant epilepsy cases (DRE), vagus nerve stimulation (VNS) retains growing interest. An implantable device was first approved for epilepsy in Europe in 1994 and in the United States (US) in 1997. Subsequent modifications improved the safety and the efficacy of the system. The most recent application of vagal neurostimulation is represented by transcutaneous devices that are claimed to have strong therapeutic potential. In this review, we sought to analyze the most meaningful available data describing the indications, safety and efficacy of the different approaches of VNS in clinical practice. Therefore, we identified studies reporting VNS efficacy and/or safety in epilepsy and its comorbidities from January 1990 to February 2020 from various databases including PubMed, Scopus, Cochrane, US government databases and VNS manufacturer published resources. In general, VNS efficacy becomes optimal around the sixth month of treatment and a 50-100 % seizure frequency reduction is achieved in approximately 45-65 % of the patients. However, some clinically relevant differences have been reported with specific factors such as epilepsy etiology or type, patient age as well as the delay of VNS therapy onset. VNS efficacy on seizure frequency has been demonstrated in both children and adults, in lesional and non-lesional cases, in focal and generalized epilepsies, on both seizures and epilepsy comorbidities. Regarding the latter, VNS can lead to an improvement of about 25-35 % in depression scores, 35 % in anxiety scores and 25 % in mood assessment scores. If non-invasive devices are undeniably safer, their efficacy is limited due to the scarcity of large cohort studies and the disparity of methodological approaches (study design and stimulation parameters). Overall, we believe that there is a progress margin for improving the safety of implantable devices and, above all, the effectiveness of the various VNS approaches.
Topics: Drug Resistant Epilepsy; Epilepsy; Europe; Humans; Seizures; Treatment Outcome; Vagus Nerve Stimulation
PubMed: 33120323
DOI: 10.1016/j.seizure.2020.09.027 -
Epilepsy & Behavior : E&B Feb 2024Hospital based EEG recordings have been the norm to assist in the diagnosis and management of patients with unclassified events and known drug resistant epilepsy.... (Review)
Review
Hospital based EEG recordings have been the norm to assist in the diagnosis and management of patients with unclassified events and known drug resistant epilepsy. Ambulatory EEG (AEEG) is a tool that comes to serve the needs for a portable testing that can be done at home, often with higher accessibility compared to an epilepsy monitoring unit and with lower cost. The current technology provides good quality EEG tracing and can be done with video when needed. In this review we discuss how AEEG should be performed and the preferred indications in which this test may be of utmost help. The advent of ultra-long ambulatory recording may be the future for selected patients as this technology evolves.
Topics: Humans; Epilepsy; Monitoring, Ambulatory; Video Recording; Electroencephalography; Drug Resistant Epilepsy
PubMed: 38176091
DOI: 10.1016/j.yebeh.2023.109615 -
Neurologic Clinics Nov 2022Epilepsy is most common in older people and yet optimizing the management of seizures in this demographic has often been somewhat overlooked. With populations aging... (Review)
Review
Epilepsy is most common in older people and yet optimizing the management of seizures in this demographic has often been somewhat overlooked. With populations aging across the world and those with complex early-onset epilepsies thankfully living into later life, the prevalence of epilepsy in older people is escalating rapidly. Assessment and management in this age group can be challenging. Seizures may present in unusual ways and the complex comorbidities and polypharmacy that often characterize older age, might make establishing a diagnosis of epilepsy in older persons difficult. Drug choices and treatment options are often more limited and need to be specifically tailored to the older individual with careful consideration of relevant comorbidities. The complex inter-relationship between epilepsy, dementia, and vascular disease in older people would seem a research priority, as there might be interventions to help reduce adverse outcomes in a growing and potentially vulnerable group.
Topics: Humans; Aged; Aged, 80 and over; Anticonvulsants; Epilepsy; Seizures; Comorbidity; Aging
PubMed: 36270697
DOI: 10.1016/j.ncl.2022.03.014