ABSENCE TYPE EPILEPSY: A BIBLIOGRAPHICAL REVIEW OF PATHOPHYSIOLOGICAL MECHANISMS AND THERAPEUTIC APPROACHES
DOI:
https://doi.org/10.47820/recima21.v5i5.5237Keywords:
Epilepsy, Absence, Pathophysiology, TherapeuticsAbstract
Introduction: Absence-type epilepsy is a specific form of generalized epilepsy, characterized by frequent and brief episodes of loss of consciousness, which generally last a few seconds to a minute. Objective: To analyze the pathophysiological mechanisms and therapeutic approaches of absence epilepsy, providing an updated synthesis of the scientific literature. Methodology: This is a bibliographical review, using articles present in the following databases: PubMed, Scopus and SciELO. Original articles and systematic reviews in English and Portuguese published between 2014 and 2024 were included, which addressed pathophysiological mechanisms and therapeutic approaches to absence type epilepsy. After analysis, 29 articles were selected to prepare this bibliographic review. Results and Discussion: The pathophysiological mechanisms of absence epilepsy involve a complex interaction between ion channel dysfunctions, neurochemical dysregulation, changes in neuronal connectivity and genetic factors. Understanding these mechanisms is essential for developing new therapeutic approaches and identifying potential targets for treatment. Therapy is based on a multidisciplinary approach, which includes antiepileptic medications, non-pharmacological interventions, such as the ketogenic diet and vagus nerve stimulation. Conclusion: A holistic and individualized approach is essential for the successful management of absence epilepsy, aiming not only to control seizures, but also to improve the patient's quality of life and global well-being.
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ASADI-POOYA, Ali A.; FARAZDAGHI, Mohsen. Childhood vs. juvenile absence epilepsy: How to make a diagnosis. Seizure, v. 102, p. 125-128, 2022. DOI: https://doi.org/10.1016/j.seizure.2022.10.008
CAVALCANTI, Lívia Barbosa et al. Neuroestimulação vagal e profunda na epilepsia refratária: uma revisão de escopo. Revista Neurociências, v. 32, p. 1-22, 2024. DOI: https://doi.org/10.34024/rnc.2024.v32.15666
CELLI, Roberta et al. mGlu3 metabotropic glutamate receptors as a target for the treatment of absence epilepsy: preclinical and human genetics data. Current neuropharmacology, v. 21, n. 1, p. 105, 2023. DOI: https://doi.org/10.2174/1570159X20666220509160511
CELLI, Roberta et al. The α2δ subunit and absence epilepsy: beyond calcium channels?. Current Neuropharmacology, v. 15, n. 6, p. 918-925, 2017. DOI: https://doi.org/10.2174/1570159X15666170309105451
CHUAN, Zhang et al. Genetic and phenotype analysis of a Chinese cohort of infants and children with epilepsy. Frontiers in Genetics, v. 13, p. 869210, 2022. DOI: https://doi.org/10.3389/fgene.2022.869210
DA MATA OLIVEIRA, Rafaela et al. Dieta cetogênica: redução de crises convulsivas em epilepsia farmacorresistente Ketogenic diet: reduction of seizures in drug-resisting epilepsy. Brazilian Journal of Health Review, v. 5, n. 2, p. 4624-4632, 2022. DOI: https://doi.org/10.34119/bjhrv5n2-051
DEPAULIS, Antoine; CHARPIER, Stéphane. Pathophysiology of absence epilepsy: Insights from genetic models. Neuroscience Letters, v. 667, p. 53-65, 2018. DOI: https://doi.org/10.1016/j.neulet.2017.02.035
DO VALE, Gustavo Fernandes et al. Neuroplasticidade e estimulação do Nervo Vago: Revisão Integrativa dos avanços no tratamento da Epilepsia. Brazilian Journal of Implantology and Health Sciences, v. 5, n. 5, p. 2355-2374, 2023. DOI: https://doi.org/10.36557/2674-8169.2023v5n5p2355-2374
EL-AWAAD, Ehab et al. Direct, gabapentin-insensitive interaction of a soluble form of the calcium channel subunit α2δ-1 with thrombospondin-4. Scientific Reports, v. 9, n. 1, p. 16272, 2019. DOI: https://doi.org/10.1038/s41598-019-52655-y
FISHER, Robert S., et al. "Instruction manual for the ILAE 2017 operational classification of seizure types." Epilepsia 58.4 (2017): 531-542. DOI: https://doi.org/10.1111/epi.13671
GARZON, P.; LEMELLE, L.; AUVIN, S. Épilepsie absence de l’enfant: actualités diagnostiques et thérapeutiques. Archives de Pédiatrie, v. 23, n. 11, p. 1176-1183, 2016. DOI: https://doi.org/10.1016/j.arcped.2016.08.005
HOLTKAMP, Martin et al. Absence epilepsy beyond adolescence: an outcome analysis after 45 years of follow-up. Journal of Neurology, Neurosurgery & Psychiatry, v. 89, n. 6, p. 603-610, 2018. DOI: https://doi.org/10.1136/jnnp-2017-317052
KANNER, Andres M. et al. Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society. Neurology, v. 91, n. 2, p. 74-81, 2018. DOI: https://doi.org/10.1212/WNL.0000000000006636
KESSLER, Sudha Kilaru; MCGINNIS, Emily. A practical guide to treatment of childhood absence epilepsy. Pediatric Drugs, v. 21, p. 15-24, 2019. DOI: https://doi.org/10.1007/s40272-019-00325-x
KOHMANN, Denise et al. Short‐term depression of gap junctional coupling in reticular thalamic neurons of absence epileptic rats. The Journal of physiology, v. 594, n. 19, p. 5695-5710, 2016. DOI: https://doi.org/10.1113/JP271811
MAHESHWARI, Atul; NOEBELS, Jeffrey L. Monogenic models of absence epilepsy: windows into the complex balance between inhibition and excitation in thalamocortical microcircuits. Progress in brain research, v. 213, p. 223-252, 2014. DOI: https://doi.org/10.1016/B978-0-444-63326-2.00012-0
MATRICARDI, Sara et al. Current advances in childhood absence epilepsy. Pediatric neurology, v. 50, n. 3, p. 205-212, 2014. DOI: https://doi.org/10.1016/j.pediatrneurol.2013.10.009
MENDONÇA, Cecilia Nascimento de et al. Dieta cetogênica na epilepsia fármaco-resistente: avaliação clínica-nutricional. Arquivos de Neuro-Psiquiatria, v. 82, p. s00441779269, 2024.
MYERS, Kenneth A. et al. Contribution of rare genetic variants to drug response in absence epilepsy. Epilepsy research, v. 170, p. 106537, 2021. DOI: https://doi.org/10.1016/j.eplepsyres.2020.106537
NGOMBA, Richard Teke; VAN LUIJTELAAR, Gilles. Metabotropic glutamate receptors as drug targets for the treatment of absence epilepsy. Current opinion in pharmacology, v. 38, p. 43-50, 2018. DOI: https://doi.org/10.1016/j.coph.2018.01.012
ÖZÇELIK, Emel Ur; ÇOKAR, Özlem; DEMIRBILEK, Veysi. Pretreatment electroencephalographic features in patients with childhood absence epilepsy. Neurophysiologie Clinique, v. 52, n. 4, p. 280-289, 2022. DOI: https://doi.org/10.1016/j.neucli.2022.07.003
PEREIRA, Joelma Cunha et al. Benefício da dieta cetogênica no tratamento em crianças com epilepsia: uma revisão da literatura. Research, society and development, v. 10, n. 15, p. e29101521809-e29101521809, 2021. DOI: https://doi.org/10.33448/rsd-v10i15.21809
RUSSO, Emilio; CITRARO, Rita. Pharmacology of epileptogenesis and related comorbidities in the WAG/Rij rat model of genetic absence epilepsy. Journal of Neuroscience Methods, v. 310, p. 54-62, 2018. DOI: https://doi.org/10.1016/j.jneumeth.2018.05.020
STAFSTROM, Carl E. et al. Diagnosing and managing childhood absence epilepsy by telemedicine. Epilepsy & Behavior, v. 115, p. 107404, 2021. DOI: https://doi.org/10.1016/j.yebeh.2020.107404
UNTERBERGER, Iris et al. Generalized nonmotor (absence) seizures—What do absence, generalized, and nonmotor mean?. Epilepsia, v. 59, n. 3, p. 523-529, 2018. DOI: https://doi.org/10.1111/epi.13996
VAN LUIJTELAAR, G.; ZOBEIRI, M. Progress and outlooks in a genetic absence epilepsy model (WAG/Rij). Current medicinal chemistry, v. 21, n. 6, p. 704-721, 2014. DOI: https://doi.org/10.2174/0929867320666131119152913
VAN LUIJTELAAR, Gilles et al. Experimental treatment options in absence epilepsy. Current Pharmaceutical design, v. 23, n. 37, p. 5577-5592, 2017. DOI: https://doi.org/10.2174/1381612823666171017170226
VILLALTA, José David Andrade et al. Estimulação do nervo vago em epilepsia refratária e calosotomia prévia sem melhora. Relato de caso. Vive Revista de Salud, v. 6, n. 16, p. 116-128, 2023. DOI: https://doi.org/10.33996/revistavive.v6i16.211
YADALA, Sisira. and KRISHNA Nalleballe. “Juvenile Absence Epilepsy.” StatPearls, 7 aug. 2023.
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