Microglia and <i>status epilepticus</i> in the immature brain

López‐Meraz, María Leonor; Álvarez‐Croda, Dulce‐Mariely

doi:10.1002/epi4.12610

Cited by 5 publications

(2 citation statements)

References 72 publications

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“…A fulminant aberrant inflammatory response in the central nervous system has been proposed as a unifying mechanism [3, 4]. SE may induce a proinflammatory cascade, with several of these molecules promoting proconvulsant activity [5, 6]. Furthermore, reported abnormal imaging findings have been variable and nonspecific [7, 8].…”

Section: Introductionmentioning

confidence: 99%

The genetic spectrum of febrile infection-related epilepsy syndrome (FIRES) and refractory status epilepticus

deCampo

Xian

Karlin

et al. 2023

Preprint

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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. 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. Management included use of steroids and intravenous immunoglobulin (IVIG) in most individuals, followed by the ketogenic diet, and, after 2014, an increasing use of immunosuppressants, IVIG, and plasma exchange (PLEX). 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. 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. 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. Furthermore, the difference in genetic signatures between FIRES and RSE suggest distinct underlying etiologies.

show abstract

Section: Introductionmentioning

confidence: 99%

The genetic spectrum of febrile infection-related epilepsy syndrome (FIRES) and refractory status epilepticus

deCampo

Xian

Karlin

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

“…A fulminant aberrant inflammatory response in the central nervous system has been proposed as a unifying mechanism ( 3 , 4 ). SE may induce a proinflammatory cascade, with several of these molecules further promoting proconvulsant activity which becomes refractory to treatment ( 5 , 6 ). Furthermore, reported abnormal imaging findings have been variable and nonspecific ( 7 , 8 ).…”

Section: Introductionmentioning

confidence: 99%

Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus

et al. 2023

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IntroductionFebrile 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.MethodsHere, 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.ResultsManagement 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.DiscussionFIRES 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.

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Microglia and status epilepticus in the immature brain

López‐Meraz

Álvarez‐Croda

2022

Epilepsia Open

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Microglia are the resident immune cells of the Central Nervous System (CNS), which are activated due to brain damage, as part of the neuroinflammatory response. Microglia undergo morphological and biochemical modifications during activation, adopting a pro‐inflammatory or an antiinflammatory state. In the developing brain, status epilepticus (SE) promotes microglia activation that is associated with neuronal injury in some areas of the brain, such as the hippocampus, thalamus, and amygdala. However, the timing of this activation, the anatomical pattern, and the morphological and biochemical characteristics of microglia in the immature brain are age‐dependent and have not been fully characterized. Therefore, this review focuses on the response of microglia to SE and its relationship to neurodegeneration.

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Microglia and status epilepticus in the immature brain

Cited by 5 publications

References 72 publications

The genetic spectrum of febrile infection-related epilepsy syndrome (FIRES) and refractory status epilepticus

The genetic spectrum of febrile infection-related epilepsy syndrome (FIRES) and refractory status epilepticus

Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus

Microglia and status epilepticus in the immature brain

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