ArticleAnnals of clinical and translational neurology2020
Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome.
Article in Annals of clinical and translational neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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Who cites it
12 citing papers in PubMed, 24 citations in OpenAlex.
- Investigating HLA haplotypes as a potential risk factor for nodding syndrome: A case-control study in the Mahenge area, Tanzania.PLoS neglected tropical diseases · 2025Article
- De novo pathogenic CSF1R variant implicates microglial dysfunction in pathogenesis of febrile infection-related epilepsy syndrome.Epilepsia · 2025Article
- NORSE, FIRES, and a Polygenic Trickle of Autoimmunity.Annals of neurology · 2025Article
- Article
- NORSE/FIRES: how can we advance our understanding of this devastating condition?Frontiers in neurology · 2024Review
- Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus.Frontiers in neurology · 2023Article
- A practical approach to in-hospital management of new-onset refractory status epilepticus/febrile infection related epilepsy syndrome.Frontiers in neurology · 2023Review
- Article
- Connections Between Febrile Infection-Related Epilepsy Syndrome and Autoimmune Encephalitis. A Case Report of a Child With New Anti-neuronal Antibodies.Frontiers in pediatrics · 2022Article
- Hypothesis: Febrile infection-related epilepsy syndrome is a microglial NLRP3 inflammasome/IL-1 axis-driven autoinflammatory syndrome.Clinical & translational immunology · 2021Article
- Identification of MissenseChildren (Basel, Switzerland) · 2020Article
- Network for Therapy in Rare Epilepsies (NETRE): Lessons From the Past 15 Years.Frontiers in neurology · 2020Review
Corrections and comments
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Authors and funding
19 authors at 9 institutions in 8 countries.
Funding
Abstract
Febrile infection-related epilepsy syndrome (FIRES) is a devastating epilepsy characterized by new-onset refractory status epilepticus with a prior febrile infection. We performed exome sequencing in 50 individuals with FIRES, including 27 patient-parent trios and 23 single probands, none of whom had pathogenic variants in established genes for epilepsies or neurodevelopmental disorders. We also performed HLA sequencing in 29 individuals with FIRES and 529 controls, which failed to identify prominent HLA alleles. The genetic architecture of FIRES is substantially different from other developmental and epileptic encephalopathies, and the underlying etiology remains elusive, requiring novel approaches to identify the underlying causative factors.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.