Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome. Issue 8 (14th July 2020)

• Record Type: Journal Article
• Authors: Helbig, Ingo; Barcia, Giulia; Pendziwiat, Manuela; Ganesan, Shiva; Mueller, Stefanie H.; Helbig, Katherine L.; Vaidiswaran, Priya; Xian, Julie; Galer, Peter D.; Afawi, Zaid; Specchio, Nicola; Kluger, Gerhard; Kuhlenbäumer, Gregor; Appenzeller, Silke; Wittig, Michael; Kramer, Uri; van Baalen, Andreas; Nabbout, Rima
• Is Part Of: Annals of clinical and translational neurology. Volume 7:Issue 8(2020)
• Page Start: 1429
• Page End: 1435
• Publication Date: 2020-07-14
• Subjects: Nervous system -- Diseases -- Periodicals; Neurology -- Periodicals; 616.8005
• DOI: 10.1002/acn3.51062
• Languages: English
• ISSNs: 2328-9503

Abstract

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.