Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome
| العنوان: | Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome |
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| المؤلفون: | Rima Nabbout, Nicola Specchio, Ingo Helbig, Giulia Barcia, Michael Wittig, Peter D. Galer, Stefanie H. Mueller, Uri Kramer, Manuela Pendziwiat, Andreas van Baalen, Gregor Kuhlenbäumer, Silke Appenzeller, Zaid Afawi, Katherine L. Helbig, Shiva Ganesan, Gerhard Kluger, Priya Vaidiswaran, Julie Xian |
| المساهمون: | Psychiatry |
| المصدر: | Annals of Clinical and Translational Neurology, 7(8), 1429-1435. John Wiley & Sons Inc. Annals of Clinical and Translational Neurology Annals of Clinical and Translational Neurology, Vol 7, Iss 8, Pp 1429-1435 (2020) |
| بيانات النشر: | Wiley, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, Proband, Drug Resistant Epilepsy, Adolescent, Fever, Neurosciences. Biological psychiatry. Neuropsychiatry, Status epilepticus, Human leukocyte antigen, Brief Communication, Communicable Diseases, 03 medical and health sciences, Epilepsy, Status Epilepticus, 0302 clinical medicine, HLA Antigens, Exome Sequencing, medicine, Humans, RC346-429, Child, Exome, Exome sequencing, business.industry, General Neuroscience, Sequence Analysis, DNA, medicine.disease, Febrile infection related epilepsy syndrome, 030104 developmental biology, nervous system, Child, Preschool, Epilepsy syndromes, Immunology, Female, Neurology. Diseases of the nervous system, Neurology (clinical), medicine.symptom, business, Epileptic Syndromes, 030217 neurology & neurosurgery, RC321-571 |
| الوصف: | 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. |
| وصف الملف: | application/pdf |
| تدمد: | 2328-9503 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1310dcd13a060d9071452b6afbfc5408Test https://doi.org/10.1002/acn3.51062Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....1310dcd13a060d9071452b6afbfc5408 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 23289503 |
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