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Molecular Medicine Reports Apr 2020Epilepsy is a common, serious neurological disorder worldwide. Although this disease can be successfully treated in most cases, not all patients respond favorably to... (Review)
Review
Epilepsy is a common, serious neurological disorder worldwide. Although this disease can be successfully treated in most cases, not all patients respond favorably to medical treatments, which can lead to pharmacoresistant epilepsy. Drug‑resistant epilepsy can be caused by a number of mechanisms that may involve environmental and genetic factors, as well as disease‑ and drug‑related factors. In recent years, numerous studies have demonstrated that genetic variation is involved in the drug resistance of epilepsy, especially genetic variations found in drug resistance‑related genes, including the voltage‑dependent sodium and potassium channels genes, and the metabolizer of endogenous and xenobiotic substances genes. The present review aimed to highlight the genetic variants that are involved in the regulation of drug resistance in epilepsy; a comprehensive understanding of the role of genetic variation in drug resistance will help us develop improved strategies to regulate drug resistance efficiently and determine the pathophysiological processes that underlie this common human neurological disease.
Topics: Drug Resistance; Epilepsy; Genetic Variation; Humans
PubMed: 32319641
DOI: 10.3892/mmr.2020.10999 -
Neurology India 2017
Topics: Anticonvulsants; Epilepsy; Humans; Neuroimaging; Prescriptions; Seizures
PubMed: 28281488
DOI: 10.4103/neuroindia.NI_91_17 -
The Journal of Pediatrics Mar 2018
Review
Topics: Child; Epilepsy; Humans; Language Disorders
PubMed: 29241678
DOI: 10.1016/j.jpeds.2017.10.031 -
Epilepsia Oct 2015The steps from patient evaluation to genetic diagnosis remain complicated. We discuss some of the genetic testing methods available along with their general advantages... (Review)
Review
The steps from patient evaluation to genetic diagnosis remain complicated. We discuss some of the genetic testing methods available along with their general advantages and disadvantages. We briefly review common pediatric epilepsy syndromes with strong genetic association and provide a potentially useful algorithm for genetic testing in drug-resistant epilepsy. We performed an extensive literature review of available information as it pertains to genetic testing and genetics in pediatric epilepsy. If a genetic disorder is suspected as the cause of epilepsy, based on drug resistance, family history, or clinical phenotype, timely diagnosis may reduce overall cost, limit the diagnostic odyssey that can bring much anxiety to families, improve prognostic accuracy, and lead to targeted therapy. Interpretation of complicated results should be performed only in collaboration with geneticists and genetic counselors, unless the ordering neurologist has a strong background in and understanding of genetics. Genetic testing can play an important role in the care provided to patients with epilepsy.
Topics: Child; Epilepsy; Genetic Testing; Humans; Methylene Blue; Pediatrics
PubMed: 26345167
DOI: 10.1111/epi.13122 -
Molecular Neurobiology Mar 2019Experimental and clinical findings suggest a crucial role for inflammation in the onset of pediatric seizures; this mechanism is not targeted by conventional... (Review)
Review
Experimental and clinical findings suggest a crucial role for inflammation in the onset of pediatric seizures; this mechanism is not targeted by conventional antiepileptic drugs and may contribute to refractory epilepsy. Several triggers, including infection with neurotropic viruses such as human herpesvirus 6 (HHV-6), other herpesviruses, and picornaviruses, appear to induce activation of the innate and adaptive immune systems, which results in several neuroinflammatory responses, leading to enhanced neuronal excitability, and ultimately contributing to epileptogenesis. This review discusses the proposed mechanisms by which infection with herpesviruses, and particularly with HHV-6, and ensuing inflammation may lead to seizure generation, and later development of epilepsy. We also examine the evidence that links herpesvirus and picornavirus infections with acute seizures and chronic forms of epilepsy. Understanding the mechanisms by which specific viruses may trigger a cascade of alterations in the CNS ultimately leading to epilepsy appears critical for the development of therapeutic agents that may target the virus or inflammatory mechanisms early and prevent progression of epileptogenesis.
Topics: Epilepsy; Humans; Inflammation; Virus Diseases
PubMed: 29978423
DOI: 10.1007/s12035-018-1215-5 -
Neurologia Medico-chirurgica May 2016This article reviews the current topics in the field of epilepsy surgery. Each type of epilepsy is associated with a different set of questions and goals. In mesial... (Review)
Review
This article reviews the current topics in the field of epilepsy surgery. Each type of epilepsy is associated with a different set of questions and goals. In mesial temporal lobe epilepsy (MTLE) with hippocampal sclerosis (HS), postoperative seizure outcome is satisfactory. A recent meta-analysis revealed superior seizure outcome after anterior temporal lobectomy compared with selective amygdalohippocampectomy; in terms of cognitive outcome; however, amygdalohippocampectomy may be beneficial. In temporal lobe epilepsy with normal magnetic resonance imaging (MRI), postoperative seizure outcome is not as favorable as it is in MTLE with HS; further improvement of seizure outcome in these cases is necessary. Focal cortical dysplasia is the most common substrate in intractable neocortical epilepsy, especially in children, as well as in MRI-invisible neocortical epilepsy. Postoperative seizure-free outcome is approximately 60-70%; further diagnostic and therapeutic improvement is required. Regarding diagnostic methodology, an important topic currently under discussion is wideband electroencephalogram (EEG) analysis. Although high-frequency oscillations and ictal direct current shifts are considered important markers of epileptogenic zones, the clinical significance of these findings should be clarified further. Regarding alternatives to surgery, neuromodulation therapy can be an option for patients who are not amenable to resective surgery. In addition to vagus nerve stimulation, intracranial stimulation such as responsive neurostimulation or anterior thalamic stimulation is reported to have a modest seizure suppression effect. Postoperative management such as rehabilitation and antiepileptic drug (AED) management is important. It has been reported that postoperative rehabilitation improves postoperative employment status. Pre- and post-operative comprehensive care is mandatory for postoperative improvement of quality of life.
Topics: Anterior Temporal Lobectomy; Electroencephalography; Epilepsy; Humans; Treatment Outcome
PubMed: 26984452
DOI: 10.2176/nmc.ra.2015-0328 -
Annals of Clinical and Translational... Aug 2021Thousands of years after dietary therapy was proposed to treat seizures, how alterations in metabolism relates to epilepsy remains unclear, and metabolism-based... (Review)
Review
OBJECTIVE
Thousands of years after dietary therapy was proposed to treat seizures, how alterations in metabolism relates to epilepsy remains unclear, and metabolism-based therapies are not always effective.
METHODS
We consider the state of the science in metabolism-based therapies for epilepsy across the research lifecycle from basic to translational to clinical studies.
RESULTS
This analysis creates a conceptual framework for creative, rigorous, and transparent research to benefit people with epilepsy through the understanding and modification of metabolism.
INTERPRETATION
Despite intensive past efforts to evaluate metabolism-based therapies for epilepsy, distinct ways of framing a problem offer the chance to engage different mindsets and new (or newly applied) technologies. A comprehensive, creative, and inclusive problem-directed research agenda is needed, with a renewed and stringent adherence to rigor and transparency across all levels of investigation.
Topics: Epilepsy; Humans
PubMed: 34247456
DOI: 10.1002/acn3.51423 -
Epilepsia Mar 2017Neuroimaging offers a wide range of opportunities to obtain information about neuronal activity, brain inflammation, blood-brain barrier alterations, and various... (Review)
Review
Neuroimaging offers a wide range of opportunities to obtain information about neuronal activity, brain inflammation, blood-brain barrier alterations, and various molecular alterations during epileptogenesis or for the prediction of pharmacoresponsiveness as well as postoperative outcome. Imaging biomarkers were examined during the XIII Workshop on Neurobiology of Epilepsy (XIII WONOEP) organized in 2015 by the Neurobiology Commission of the International League Against Epilepsy (ILAE). Here we present an extended summary of the discussed issues and provide an overview of the current state of knowledge regarding the biomarker potential of different neuroimaging approaches for epilepsy.
Topics: Biomarkers; Blood-Brain Barrier; Education; Epilepsy; Humans; Neurobiology; Neuroimaging
PubMed: 27883181
DOI: 10.1111/epi.13621 -
Child's Nervous System : ChNS :... Jun 2023Epilepsy affects millions of children worldwide, with 20-40% experiencing drug-resistant epilepsy (DRE) who are recommended for epilepsy surgery evaluation and may...
INTRODUCTION
Epilepsy affects millions of children worldwide, with 20-40% experiencing drug-resistant epilepsy (DRE) who are recommended for epilepsy surgery evaluation and may benefit from surgical management. However, many patients live with DRE for multiple years prior to surgical epilepsy referral or treatment or are never referred at all.
OBJECTIVE
We aimed to describe factors associated with referral for epilepsy surgery in the USA, in order to identify disparities in DRE, characterize why they may exist, and recognize areas for improvement.
METHODS
Pediatric patients diagnosed with DRE between January 1, 2004 and December 31, 2020 were identified from the Pediatric Health Information System (PHIS) Database. Patients treated with antiseizure medications (ASMs) only, ASMs plus vagus nerve stimulation (VNS), and ASMs plus cranial epilepsy surgery were studied regarding access to epilepsy surgery and disparities in care. This study used chi-square tests to determine associations between treatment time and preoperative factors. Preoperative factors studied included epilepsy treatment type, age, sex, race/ethnicity, insurance type, geographic region, patient type, epilepsy type, and presence of pediatric complex chronic conditions (PCCCs).
RESULTS
A total of 18,292 patients were identified; 10,240 treated with ASMs, 5019 treated with ASMs + VNS, and 3033 treated with ASMs + cranial epilepsy surgery. Sex was not found to significantly vary among groups. There was significant variation in age, census region, race/ethnicity, patient type, presence of PCCCs, diagnosis, and insurance (p < 0.001). Those treated surgically, either with VNS or cranial epilepsy surgery, were 2 years older than those medically treated. Additionally, those medically treated were less likely to be living in the Midwest (25.46%), identified as non-Hispanic white (51.78%), have a focal/partial epilepsy diagnosis (8.74%), and be privately insured (35.82%).
CONCLUSIONS
We studied a large administrative US database examining variables associated with surgical epilepsy evaluation and management. We found significant variation in treatment associated with age, US census region, race/ethnicity, patient type, presence of PCCCs, diagnosis, and health insurance type. We believe that these disparities in care are related to access and social determinants of health, and we encourage focused outreach strategies to mitigate these disparities to broaden access and improve outcomes in children in the USA with DRE.
Topics: Humans; Child; Drug Resistant Epilepsy; Epilepsy; Epilepsies, Partial; Insurance, Health; Vagus Nerve Stimulation; Treatment Outcome; Retrospective Studies
PubMed: 36797496
DOI: 10.1007/s00381-023-05854-y -
Medicina Aug 2022The International League Against Epilepsy (ILAE) recently socialized the proposed classification for epileptic syndromes of neonatal onset and up to the first 2 years of... (Review)
Review
The International League Against Epilepsy (ILAE) recently socialized the proposed classification for epileptic syndromes of neonatal onset and up to the first 2 years of age, dividing them into self-limited epileptic syndromes and epileptic and developmental encephalopathies (DEEs). In this review we will focus on DEEs, defined as disorders in which there is developmental impairment related to both the underlying aetiology independent of epileptiform activity and epileptic encephalopathy. These include early infantile epileptic encephalopathy or Ohtahara syndrome and early myoclonic encephalopathy in the neonatal period, now grouped under the name of epileptic and early childhood developmental encephalopathies (EIDEE). Infantile epileptic spasms syndrome, childhood epilepsy with migratory crises and Dravet syndrome are part of the infant-onset encephalopathies. The importance of early recognition of epileptic encephalopathies lies not only in the control of epileptic seizures, but also in stopping deterioration by trying to change the course of the disease. It is essential to know the etiology, avoiding medications that can exacerbate seizures and worsen the course, applying precision m edicine as well as identifying candidate patients for early epilepsy surgery.
Topics: Brain Diseases; Child, Preschool; Electroencephalography; Epilepsy; Epileptic Syndromes; Humans; Infant; Infant, Newborn; Seizures; Spasms, Infantile
PubMed: 36054851
DOI: No ID Found