Open AccessWhole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome
Author(s) -
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,
Baalen Andreas,
Nabbout Rima
Publication year - 2020
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51062
Subject(s) - medicine , epilepsy , exome sequencing , proband , etiology , human leukocyte antigen , status epilepticus , exome , epilepsy syndromes , febrile seizure , bioinformatics , immunology , gene , genetics , mutation , biology , psychiatry , antigen
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.