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Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus
INTRODUCTION: Febrile infection-related epilepsy syndrome (FIRES) is a severe childhood epilepsy with refractory status epilepticus after a typically mild febrile infection. The etiology of FIRES is largely unknown, and outcomes in most individuals with FIRES are poor. METHODS: Here, we reviewed the...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10106651/ https://www.ncbi.nlm.nih.gov/pubmed/37077567 http://dx.doi.org/10.3389/fneur.2023.1161161 |
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author | deCampo, Danielle Xian, Julie Karlin, Alexis Sullivan, Katie R. Ruggiero, Sarah M. Galer, Peter Ramos, Mark Abend, Nicholas S. Gonzalez, Alex Helbig, Ingo |
author_facet | deCampo, Danielle Xian, Julie Karlin, Alexis Sullivan, Katie R. Ruggiero, Sarah M. Galer, Peter Ramos, Mark Abend, Nicholas S. Gonzalez, Alex Helbig, Ingo |
author_sort | deCampo, Danielle |
collection | PubMed |
description | INTRODUCTION: Febrile infection-related epilepsy syndrome (FIRES) is a severe childhood epilepsy with refractory status epilepticus after a typically mild febrile infection. The etiology of FIRES is largely unknown, and outcomes in most individuals with FIRES are poor. METHODS: Here, we reviewed the current state-of-the art genetic testing strategies in individuals with FIRES. We performed a systematic computational analysis to identify individuals with FIRES and characterize the clinical landscape using the Electronic Medical Records (EMR). Among 25 individuals with a confirmed FIRES diagnosis over the last decade, we performed a comprehensive review of genetic testing and other diagnostic testing. RESULTS: Management included use of steroids and intravenous immunoglobulin (IVIG) in most individuals, with an increased use of immunomodulatory agents, including IVIG, plasma exchange (PLEX) and immunosuppressants such as cytokine inhibitors, and the ketogenic diet after 2014. Genetic testing was performed on a clinical basis in almost all individuals and was non-diagnostic in all patients. We compared FIRES with both status epilepticus (SE) and refractory status epilepticus (RSE) as a broader comparison cohort and identified genetic causes in 36% of patients with RSE. The difference in genetic signatures between FIRES and RSE suggest distinct underlying etiologies. In summary, despite the absence of any identifiable etiologies in FIRES, we performed an unbiased analysis of the clinical landscape, identifying a heterogeneous range of treatment strategies and characterized real-world clinical practice. DISCUSSION: FIRES remains one of the most enigmatic conditions in child neurology without any known etiologies to date despite significant efforts in the field, suggesting a clear need for further studies and novel diagnostic and treatment approaches. |
format | Online Article Text |
id | pubmed-10106651 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-101066512023-04-18 Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus deCampo, Danielle Xian, Julie Karlin, Alexis Sullivan, Katie R. Ruggiero, Sarah M. Galer, Peter Ramos, Mark Abend, Nicholas S. Gonzalez, Alex Helbig, Ingo Front Neurol Neurology INTRODUCTION: Febrile infection-related epilepsy syndrome (FIRES) is a severe childhood epilepsy with refractory status epilepticus after a typically mild febrile infection. The etiology of FIRES is largely unknown, and outcomes in most individuals with FIRES are poor. METHODS: Here, we reviewed the current state-of-the art genetic testing strategies in individuals with FIRES. We performed a systematic computational analysis to identify individuals with FIRES and characterize the clinical landscape using the Electronic Medical Records (EMR). Among 25 individuals with a confirmed FIRES diagnosis over the last decade, we performed a comprehensive review of genetic testing and other diagnostic testing. RESULTS: Management included use of steroids and intravenous immunoglobulin (IVIG) in most individuals, with an increased use of immunomodulatory agents, including IVIG, plasma exchange (PLEX) and immunosuppressants such as cytokine inhibitors, and the ketogenic diet after 2014. Genetic testing was performed on a clinical basis in almost all individuals and was non-diagnostic in all patients. We compared FIRES with both status epilepticus (SE) and refractory status epilepticus (RSE) as a broader comparison cohort and identified genetic causes in 36% of patients with RSE. The difference in genetic signatures between FIRES and RSE suggest distinct underlying etiologies. In summary, despite the absence of any identifiable etiologies in FIRES, we performed an unbiased analysis of the clinical landscape, identifying a heterogeneous range of treatment strategies and characterized real-world clinical practice. DISCUSSION: FIRES remains one of the most enigmatic conditions in child neurology without any known etiologies to date despite significant efforts in the field, suggesting a clear need for further studies and novel diagnostic and treatment approaches. Frontiers Media S.A. 2023-04-03 /pmc/articles/PMC10106651/ /pubmed/37077567 http://dx.doi.org/10.3389/fneur.2023.1161161 Text en Copyright © 2023 deCampo, Xian, Karlin, Sullivan, Ruggiero, Galer, Ramos, Abend, Gonzalez and Helbig. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neurology deCampo, Danielle Xian, Julie Karlin, Alexis Sullivan, Katie R. Ruggiero, Sarah M. Galer, Peter Ramos, Mark Abend, Nicholas S. Gonzalez, Alex Helbig, Ingo Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus |
title | Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus |
title_full | Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus |
title_fullStr | Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus |
title_full_unstemmed | Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus |
title_short | Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus |
title_sort | investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10106651/ https://www.ncbi.nlm.nih.gov/pubmed/37077567 http://dx.doi.org/10.3389/fneur.2023.1161161 |
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