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. 2020 Aug;7(8):1429-1435.
doi: 10.1002/acn3.51062. Epub 2020 Jul 14.

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

Ingo Helbig  1   2   3   4 , Giulia Barcia  5   6   7 , Manuela Pendziwiat  8 , Shiva Ganesan  1   2   3 , Stefanie H Mueller  9   10 , Katherine L Helbig  1   2   3 , Priya Vaidiswaran  1   2   4 , Julie Xian  3 , Peter D Galer  1   2   3 , Zaid Afawi  11   12   13 , Nicola Specchio  14 , Gerhard Kluger  15   16 , Gregor Kuhlenbäumer  10 , Silke Appenzeller  17 , Michael Wittig  18 , Uri Kramer  19   20 , Andreas van Baalen  8 , Rima Nabbout  5   6   21 ; FIRES Genetics Study Group
Affiliations

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

Ingo Helbig et al. Ann Clin Transl Neurol. 2020 Aug.

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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Conflict of interest statement

Nothing to report.

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