Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome

Ingo Helbig*, Giulia Barcia, Manuela Pendziwiat, Shiva Ganesan, Stefanie H. Mueller, Katherine L. Helbig, Priya Vaidiswaran, Julie Xian, Peter D. Galer, Zaid Afawi, Nicola Specchio, Gerhard Kluger, Gregor Kuhlenbäumer, Silke Appenzeller, Michael Wittig, Uri Kramer, Andreas van Baalen, Rima Nabbout

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

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.

Original languageEnglish
Pages (from-to)1429-1435
Number of pages7
JournalAnnals of Clinical and Translational Neurology
Volume7
Issue number8
DOIs
StatePublished - 1 Aug 2020

Funding

FundersFunder number
Center Without Walls
Epilepsy NeuroGenetics Initiative
National Institutes of Health
National Heart, Lung, and Blood Institute
National Human Genome Research Institute
National Institute of Neurological Disorders and StrokeU54NS108874
California Department of Fish and GameHE5415/6‐1, HE5415/7‐1, HE5415/5‐1
Children's Hospital of Philadelphia
Broad Institute5U01HG009088‐02, UM1 HG008895
European Science Foundation
Deutsche ForschungsgemeinschaftHE5415/3‐1
Agence Nationale de la RechercheANR‐10‐IAHU‐01
Fondation Bettencourt Schueller

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