Helbig, I;
Barcia, G;
Pendziwiat, M;
Ganesan, S;
Mueller, SH;
Helbig, KL;
Vaidiswaran, P;
... Nabbout, R; + view all
(2020)
Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome.
Annals of Clinical and Translational Neurology
10.1002/acn3.51062.
(In press).
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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.
| Type: | Article |
|---|---|
| Title: | Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/acn3.51062 |
| Publisher version: | https://doi.org/10.1002/acn3.51062 |
| Language: | English |
| Additional information: | © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. This is an open access article under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/). |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Health Informatics UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Health Informatics > Clinical Epidemiology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10106369 |
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