Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS
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- 作者：M. Saitoha ; makisaito-tky@umin.ac.jp" class="auth_mail" title="E-mail the corresponding author ; K. Kobayashib ; I. Ohmoric ; Y. Tanakad ; K. Tanakad ; T. Inouee ; A. Horinoe ; K. Ohmuraf ; A. Kumakurag ; Y. Takeih ; S. Hirabayashih ; M. Kajimotoi ; T. Uchidaj ; S. Yamazakik ; T. Shiiharal ; T. Kumagaim ; M. Kasaim ; H. Terashimam ; M. Kubotam ; M. Mizuguchia
- 关键词：FIRES ; Febrile infection-related epilepsy syndrome ; AERRPS ; acute encephalitis with refractory ; repetitive partial seizures ; IL1RN ; interleukin 1 receptor antagonist gene ; VNTR ; variable number of tandem repeats
- 刊名：Journal of the Neurological Sciences
- 出版年：2016
- 出版时间：15 September 2016
- 年：2016
- 卷：368
- 期：Complete
- 页码：272-276
- 全文大小：451 K
文摘
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We analyzed candidate genes in 19 Japanese patients with FIRES.
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IL1RN VNTR RN2 allele frequency was significantly high in the patients.
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Haplotype containing RN2 was associated with an increased risk of FIRES.
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SCN1A missense R1575C mutation was found in two patients.
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Multiple genetic factors may be involved in FIRES.