Epilepsy Currents最新文献

New imaging techniques appearing over the last few decades have replaced procedures that were uncomfortable, of low specificity, and prone to adverse events. While computed tomography remains useful for imaging patients with seizures in acute settings, structural magnetic resonance imaging (MRI) has become the most important imaging modality for epilepsy evaluation, with adjunctive functional imaging also increasingly well established in presurgical evaluation, including positron emission tomography (PET), single photon ictal-interictal subtraction computed tomography co-registered to MRI and functional MRI for preoperative cognitive mapping. Neuroimaging in inherited metabolic epilepsies is integral to diagnosis, monitoring, and assessment of treatment response. Neurotransmitter receptor PET and magnetic resonance spectroscopy can help delineate the pathophysiology of these disorders. Machine learning and artificial intelligence analyses based on large MRI datasets composed of healthy volunteers and people with epilepsy have been initiated to detect lesions that are not found visually, particularly focal cortical dysplasia. These methods, not yet approved for patient care, depend on careful clinical correlation and training sets that fully sample broad populations.

This review provides a practical, evidence-informed approach to initiating pharmacologic treatment for children and adolescents with epilepsy who present with comorbid neuropsychiatric symptoms including depression, behavioral dyscontrol, and attention-deficit/hyperactivity disorder. The paper addresses how to determine when medication is warranted, outlines considerations for medication selection, and offers general principles for medication initiation and monitoring. Although the discourse is aimed at a pediatric population, the concepts are applicable to other ages as well. The goal is to provide clinicians with a decision-making framework to optimize both neurological and psychiatric outcomes in this complex population.

Genetic epilepsies and developmental and epileptic encephalopathies are commonly associated with concomitant movement disorders, which can mimic seizures and/or create additional disability. Appropriate diagnosis is critical to proper management. A broad range of movement disorder phenomenologies occur among patients with genetic epilepsy, including dystonia, chorea, ataxia, myoclonus, stereotypy, tics, and Parkinsonism. For some genes, clear relationships exist between genotype and movement disorder phenotype, while in other situations, the relationship is more complex. Diagnosis of movement disorders involves elements of history, physical examination, video review, and neurophysiology. Assessment of associated impairment, distress, and/or safety concerns is important for considering risks/benefits of treatment. Movement disorders may range from severe and dangerous, requiring pharmacologic or neuromodulatory treatments such as deep brain stimulation, to relatively benign, with only reassurance and continued observation required. Appropriate treatments differ based on phenomenology and etiology, with some genes associated with tailored treatments which can provide dramatic benefit.

Developmental/epileptic encephalopathy with spike-wave activation in sleep (DEE-SWAS) is newly proposed nomenclature put forth by the International League Against Epilepsy (ILAE) to replace the problematic electrographic and/or clinical phenotypes of electrical status epilepticus of sleep (ESES) and continuous spike-wave in sleep (CSWS). The nomenclature update represents a noble effort to minimize the confusion of how to define and appropriately utilize this alphabet soup of acronyms, thereby aiding in future clinical and research efforts. The name change fails to capture greater challenges within the field, which still plague diagnosis and treatment and stagnates substantive research advancements. Through a directed literature review of DEE-SWAS with emphasis on the new ILAE nomenclature and the RESCUE-ESES trial, we will highlight major persistent quandaries in the field. These include inadequate or insufficient diagnostic biomarkers (ie, the spike wave index), the highly variable clinical manifestations, ranging from dubious associations to profound developmental regression, presumptively caused by spike-wave activation in sleep, and variable and often ineffective treatment paradigms. We will also review the broader diagnostic evaluation of DEE-SWAS. By doing so, we aim to shed light on crucial research and clinical questions that could advance our understanding of diagnosing and treating children with DEE-SWAS, as well as addressing the uncertainty surrounding the neurological effects of sleep-activated epileptiform discharges.