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

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 van Baalen; Rima Nabbout

doi:10.1002/acn3.51062

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

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 van Baalen, Rima Nabbout

^*Corresponding author for this work

Clinical Departments

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

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.

Original language	English
Pages (from-to)	1429-1435
Number of pages	7
Journal	Annals of Clinical and Translational Neurology
Volume	7
Issue number	8
DOIs	https://doi.org/10.1002/acn3.51062
State	Published - 1 Aug 2020

Funding

Funders	Funder number
Center Without Walls
Epilepsy NeuroGenetics Initiative
National Institutes of Health
National Heart, Lung, and Blood Institute
National Human Genome Research Institute
National Institute of Neurological Disorders and Stroke	U54NS108874
California Department of Fish and Game	HE5415/6‐1, HE5415/7‐1, HE5415/5‐1
Children's Hospital of Philadelphia
Broad Institute	5U01HG009088‐02, UM1 HG008895
European Science Foundation
Deutsche Forschungsgemeinschaft	HE5415/3‐1
Agence Nationale de la Recherche	ANR‐10‐IAHU‐01
Fondation Bettencourt Schueller

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Helbig, I., Barcia, G., Pendziwiat, M., Ganesan, S., Mueller, S. H., Helbig, K. L., Vaidiswaran, P., Xian, J., Galer, P. D., Afawi, Z., Specchio, N., Kluger, G., Kuhlenbäumer, G., Appenzeller, S., Wittig, M., Kramer, U., van Baalen, A., & Nabbout, R. (2020). Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome. Annals of Clinical and Translational Neurology, 7(8), 1429-1435. https://doi.org/10.1002/acn3.51062

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title = "Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome",

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.",

author = "Ingo Helbig and Giulia Barcia and Manuela Pendziwiat and Shiva Ganesan and Mueller, {Stefanie H.} and Helbig, {Katherine L.} and Priya Vaidiswaran and Julie Xian and Galer, {Peter D.} and Zaid Afawi and Nicola Specchio and Gerhard Kluger and Gregor Kuhlenb{\"a}umer and Silke Appenzeller and Michael Wittig and Uri Kramer and {van Baalen}, Andreas and Rima Nabbout",

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doi = "10.1002/acn3.51062",

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Helbig, I, Barcia, G, Pendziwiat, M, Ganesan, S, Mueller, SH, Helbig, KL, Vaidiswaran, P, Xian, J, Galer, PD, Afawi, Z, Specchio, N, Kluger, G, Kuhlenbäumer, G, Appenzeller, S, Wittig, M, Kramer, U, van Baalen, A & Nabbout, R 2020, 'Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome', Annals of Clinical and Translational Neurology, vol. 7, no. 8, pp. 1429-1435. https://doi.org/10.1002/acn3.51062

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AU - Barcia, Giulia

AU - Pendziwiat, Manuela

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AU - Mueller, Stefanie H.

AU - Helbig, Katherine L.

AU - Vaidiswaran, Priya

AU - Xian, Julie

AU - Galer, Peter D.

AU - Afawi, Zaid

AU - Specchio, Nicola

AU - Kluger, Gerhard

AU - Kuhlenbäumer, Gregor

AU - Appenzeller, Silke

AU - Wittig, Michael

AU - Kramer, Uri

AU - van Baalen, Andreas

AU - Nabbout, Rima

PY - 2020/8/1

Y1 - 2020/8/1

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

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