학술논문
Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome
Document Type
article
Author
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 vanBaalen; Rima Nabbout; FIRES Genetics Study Group
Source
Annals of Clinical and Translational Neurology, Vol 7, Iss 8, Pp 1429-1435 (2020)
Subject
Language
English
ISSN
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.