Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS

M. Saitoh, Katsuhiro Kobayashi, Iori Ohmori, Y. Tanaka, K. Tanaka, T. Inoue, A. Horino, K. Ohmura, A. Kumakura, Y. Takei, S. Hirabayashi, M. Kajimoto, T. Uchida, S. Yamazaki, T. Shiihara, T. Kumagai, M. Kasai, H. Terashima, M. Kubota, M. Mizuguchi

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Febrile infection-related epilepsy syndrome (FIRES), or acute encephalitis with refractory, repetitive partial seizures (AERRPS), is an epileptic encephalopathy beginning with fever-mediated seizures. The etiology remains unclear. To elucidate the genetic background of FIRES/AERRPS (hereafter FIRES), we recruited 19 Japanese patients, genotyped polymorphisms of the IL1B, IL6, IL10, TNFA, IL1RN, SCN1A and SCN2A genes, and compared their frequency between the patients and controls. For IL1RN, the frequency of a variable number of tandem repeat (VNTR) allele, RN2, was significantly higher in the patients than in controls (p = 0.0067), and A allele at rs4251981 in 5′ upstream of IL1RN with borderline significance (p = 0.015). Haplotype containing RN2 was associated with an increased risk of FIRES (OR 3.88, 95%CI 1.40–10.8, p = 0.0057). For SCN1A, no polymorphisms showed a significant association, whereas a missense mutation, R1575C, was found in two patients. For SCN2A, the minor allele frequency of G allele at rs1864885 was higher in patients with borderline significance (p = 0.011). We demonstrated the association of IL1RN haplotype containing RN2 with FIRES, and showed a possible association of IL1RN rs4251981 G > A and SCN2A rs1864885 A > G, in Japanese patients. These preliminary findings suggest the involvement of multiple genetic factors in FIRES, which needs to be confirmed by future studies in a larger number of FIRES cases.

Original languageEnglish
Pages (from-to)272-276
Number of pages5
JournalJournal of the Neurological Sciences
Volume368
DOIs
Publication statusPublished - Sep 15 2016

Fingerprint

Sodium Channels
Causality
Epilepsy
Seizures
Cytokines
Fever
Infection
Febrile Seizures
Alleles
Haplotypes
Minisatellite Repeats
Acute Febrile Encephalopathy
Brain Diseases
Missense Mutation
Gene Frequency
Interleukin-10
Interleukin-6

Keywords

  • Acute encephalopathy
  • Association studies in genetics
  • ILRN
  • SCN1A
  • SCN2A

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS. / Saitoh, M.; Kobayashi, Katsuhiro; Ohmori, Iori; Tanaka, Y.; Tanaka, K.; Inoue, T.; Horino, A.; Ohmura, K.; Kumakura, A.; Takei, Y.; Hirabayashi, S.; Kajimoto, M.; Uchida, T.; Yamazaki, S.; Shiihara, T.; Kumagai, T.; Kasai, M.; Terashima, H.; Kubota, M.; Mizuguchi, M.

In: Journal of the Neurological Sciences, Vol. 368, 15.09.2016, p. 272-276.

Research output: Contribution to journalArticle

Saitoh, M, Kobayashi, K, Ohmori, I, Tanaka, Y, Tanaka, K, Inoue, T, Horino, A, Ohmura, K, Kumakura, A, Takei, Y, Hirabayashi, S, Kajimoto, M, Uchida, T, Yamazaki, S, Shiihara, T, Kumagai, T, Kasai, M, Terashima, H, Kubota, M & Mizuguchi, M 2016, 'Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS', Journal of the Neurological Sciences, vol. 368, pp. 272-276. https://doi.org/10.1016/j.jns.2016.07.040
Saitoh, M. ; Kobayashi, Katsuhiro ; Ohmori, Iori ; Tanaka, Y. ; Tanaka, K. ; Inoue, T. ; Horino, A. ; Ohmura, K. ; Kumakura, A. ; Takei, Y. ; Hirabayashi, S. ; Kajimoto, M. ; Uchida, T. ; Yamazaki, S. ; Shiihara, T. ; Kumagai, T. ; Kasai, M. ; Terashima, H. ; Kubota, M. ; Mizuguchi, M. / Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS. In: Journal of the Neurological Sciences. 2016 ; Vol. 368. pp. 272-276.
@article{6651c580614c41fbbe0d0aa7b50b44ca,
title = "Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS",
abstract = "Febrile infection-related epilepsy syndrome (FIRES), or acute encephalitis with refractory, repetitive partial seizures (AERRPS), is an epileptic encephalopathy beginning with fever-mediated seizures. The etiology remains unclear. To elucidate the genetic background of FIRES/AERRPS (hereafter FIRES), we recruited 19 Japanese patients, genotyped polymorphisms of the IL1B, IL6, IL10, TNFA, IL1RN, SCN1A and SCN2A genes, and compared their frequency between the patients and controls. For IL1RN, the frequency of a variable number of tandem repeat (VNTR) allele, RN2, was significantly higher in the patients than in controls (p = 0.0067), and A allele at rs4251981 in 5′ upstream of IL1RN with borderline significance (p = 0.015). Haplotype containing RN2 was associated with an increased risk of FIRES (OR 3.88, 95{\%}CI 1.40–10.8, p = 0.0057). For SCN1A, no polymorphisms showed a significant association, whereas a missense mutation, R1575C, was found in two patients. For SCN2A, the minor allele frequency of G allele at rs1864885 was higher in patients with borderline significance (p = 0.011). We demonstrated the association of IL1RN haplotype containing RN2 with FIRES, and showed a possible association of IL1RN rs4251981 G > A and SCN2A rs1864885 A > G, in Japanese patients. These preliminary findings suggest the involvement of multiple genetic factors in FIRES, which needs to be confirmed by future studies in a larger number of FIRES cases.",
keywords = "Acute encephalopathy, Association studies in genetics, ILRN, SCN1A, SCN2A",
author = "M. Saitoh and Katsuhiro Kobayashi and Iori Ohmori and Y. Tanaka and K. Tanaka and T. Inoue and A. Horino and K. Ohmura and A. Kumakura and Y. Takei and S. Hirabayashi and M. Kajimoto and T. Uchida and S. Yamazaki and T. Shiihara and T. Kumagai and M. Kasai and H. Terashima and M. Kubota and M. Mizuguchi",
year = "2016",
month = "9",
day = "15",
doi = "10.1016/j.jns.2016.07.040",
language = "English",
volume = "368",
pages = "272--276",
journal = "Journal of the Neurological Sciences",
issn = "0022-510X",
publisher = "Elsevier",

}

TY - JOUR

T1 - Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS

AU - Saitoh, M.

AU - Kobayashi, Katsuhiro

AU - Ohmori, Iori

AU - Tanaka, Y.

AU - Tanaka, K.

AU - Inoue, T.

AU - Horino, A.

AU - Ohmura, K.

AU - Kumakura, A.

AU - Takei, Y.

AU - Hirabayashi, S.

AU - Kajimoto, M.

AU - Uchida, T.

AU - Yamazaki, S.

AU - Shiihara, T.

AU - Kumagai, T.

AU - Kasai, M.

AU - Terashima, H.

AU - Kubota, M.

AU - Mizuguchi, M.

PY - 2016/9/15

Y1 - 2016/9/15

N2 - Febrile infection-related epilepsy syndrome (FIRES), or acute encephalitis with refractory, repetitive partial seizures (AERRPS), is an epileptic encephalopathy beginning with fever-mediated seizures. The etiology remains unclear. To elucidate the genetic background of FIRES/AERRPS (hereafter FIRES), we recruited 19 Japanese patients, genotyped polymorphisms of the IL1B, IL6, IL10, TNFA, IL1RN, SCN1A and SCN2A genes, and compared their frequency between the patients and controls. For IL1RN, the frequency of a variable number of tandem repeat (VNTR) allele, RN2, was significantly higher in the patients than in controls (p = 0.0067), and A allele at rs4251981 in 5′ upstream of IL1RN with borderline significance (p = 0.015). Haplotype containing RN2 was associated with an increased risk of FIRES (OR 3.88, 95%CI 1.40–10.8, p = 0.0057). For SCN1A, no polymorphisms showed a significant association, whereas a missense mutation, R1575C, was found in two patients. For SCN2A, the minor allele frequency of G allele at rs1864885 was higher in patients with borderline significance (p = 0.011). We demonstrated the association of IL1RN haplotype containing RN2 with FIRES, and showed a possible association of IL1RN rs4251981 G > A and SCN2A rs1864885 A > G, in Japanese patients. These preliminary findings suggest the involvement of multiple genetic factors in FIRES, which needs to be confirmed by future studies in a larger number of FIRES cases.

AB - Febrile infection-related epilepsy syndrome (FIRES), or acute encephalitis with refractory, repetitive partial seizures (AERRPS), is an epileptic encephalopathy beginning with fever-mediated seizures. The etiology remains unclear. To elucidate the genetic background of FIRES/AERRPS (hereafter FIRES), we recruited 19 Japanese patients, genotyped polymorphisms of the IL1B, IL6, IL10, TNFA, IL1RN, SCN1A and SCN2A genes, and compared their frequency between the patients and controls. For IL1RN, the frequency of a variable number of tandem repeat (VNTR) allele, RN2, was significantly higher in the patients than in controls (p = 0.0067), and A allele at rs4251981 in 5′ upstream of IL1RN with borderline significance (p = 0.015). Haplotype containing RN2 was associated with an increased risk of FIRES (OR 3.88, 95%CI 1.40–10.8, p = 0.0057). For SCN1A, no polymorphisms showed a significant association, whereas a missense mutation, R1575C, was found in two patients. For SCN2A, the minor allele frequency of G allele at rs1864885 was higher in patients with borderline significance (p = 0.011). We demonstrated the association of IL1RN haplotype containing RN2 with FIRES, and showed a possible association of IL1RN rs4251981 G > A and SCN2A rs1864885 A > G, in Japanese patients. These preliminary findings suggest the involvement of multiple genetic factors in FIRES, which needs to be confirmed by future studies in a larger number of FIRES cases.

KW - Acute encephalopathy

KW - Association studies in genetics

KW - ILRN

KW - SCN1A

KW - SCN2A

UR - http://www.scopus.com/inward/record.url?scp=84978835910&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84978835910&partnerID=8YFLogxK

U2 - 10.1016/j.jns.2016.07.040

DO - 10.1016/j.jns.2016.07.040

M3 - Article

C2 - 27538648

AN - SCOPUS:84978835910

VL - 368

SP - 272

EP - 276

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

ER -