Genetic susceptibility to febrile seizures: Case-control association studies

Kira, Ryutaro; Ishizaki, Yoshito; Torisu, Hiroyuki; Sanefuji, Masafumi; Takemoto, Megumi; Sakamoto, Kazumitsu; Matsumoto, Shigetaka; Yamaguchi, Yoshiki; Yukaya, Naoko; Sakai, Yasunari; Gondo, Kenjiro; Hara, Toshiro

doi:10.1016/j.braindev.2009.09.018

Cited by 28 publications

(22 citation statements)

References 61 publications

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“…Increased susceptibility to the development of FS is now known to result from mutations of several genes, including sodium channels [14][15][16], GABA A receptors [17][18][19][20], and hyperpolarization-activated cyclic nucleotidegated (HCN) channels [21][22][23]. Other single gene mutations, such as in the interleukin (IL-1) gene promoter, have also been implicated in a vulnerability to FS or TLE [24,25] and interaction among several genes might increase the probability of developing FS in a given individual [26,27].…”

Section: Geneticsmentioning

confidence: 99%

“…IL-1β augments calcium permeability of glutamate receptors [54] and the function of kinases (ceramide-induced Src-family of tyrosine kinases) enhancing seizures of many kinds [55]. Endogenous IL-1β contributes to the generation of experimental FS, and a mutation in the IL-1β gene promoter that results in higher levels of this cytokine has been reported in some individuals with FS and TLE [24,25]. Whereas some infections (especially human herpes virus 6) seem to be a strong provoker of FS [56], it is unknown if this augments levels of cytokines in a child's brain.…”

Section: How Are Fs Generated?mentioning

confidence: 99%

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Origins of Temporal Lobe Epilepsy: Febrile Seizures and Febrile Status Epilepticus

2014

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Temporal lobe epilepsy (TLE) and hippocampal sclerosis (HS) commonly arise following early-life long seizures, and especially febrile status epilepticus (FSE). However, there are major gaps in our knowledge regarding the causal relationships of FSE, TLE, HS and cognitive disturbances that hamper diagnosis, biomarker development and prevention. The critical questions include: What is the true probability of developing TLE after FSE? Are there predictive markers for those at risk? A fundamental question is whether FSE is simply a marker of individuals who are destined to develop TLE, or if FSE contributes to the risk of developing TLE. If FSE does contribute to epileptogenesis, then does this happen only in the setting of a predisposed brain? These questions are addressed within this review, using information gleaned over the past two decades from clinical studies as well as animal models.

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Section: Geneticsmentioning

confidence: 99%

Section: How Are Fs Generated?mentioning

confidence: 99%

Origins of Temporal Lobe Epilepsy: Febrile Seizures and Febrile Status Epilepticus

2014

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“…On the other hand, IL-10 may suppress the fever response, resulting in inhibition of temperature elevation and subsequent decreased febrile seizure susceptibility. However, considering the results of animal experiments under high-temperature, it is possible that IL-1β and IL-10 may directly induce and reduce neuronal hyperexcitability, respectively, leading to decreased and increased seizure thresholds [19].…”

Section: Patient Characteristicsmentioning

confidence: 99%

The Correlation Between IL-1β and IL-10 Levels in Estimating The Risk of Febrile Seizures

Gunawan¹,

Muid²,

Suyudi³

et al. 2014

JTLS

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Febrile seizures are the most-common form of seizures in children with fever and evidence from clinical and experimental studies suggests the potential role of immune generated products in their genesis. The balance between pro-inflammatory (IL-1β) and anti-inflammatory (IL-10) cytokines influences the regulation of infections and plays a role in the pathogenesis of febrile seizures. In existing literature, there is no research into the correlation between IL-1β and IL-10 levels as well as ratio of IL-1β to IL-10 in estimating the risk of febrile seizures in seizure-prone children aged 3 months to 5 years. In this study, IL-1β, IL-10 levels and ratio of IL-1β to IL-10 in the risk of febrile seizures were investigated, and respondents were divided into 3 groups, febrile seizures, febrile without seizures and healthy children without histories of febrile seizure. A cross-sectional design was used and each group had 17 co-respondents. Levels of IL-1β and IL-10 were measured using ELISA. Data were analyzed by SPSS 15. Findings showed there were significant differences between IL-1β and IL-10 as well in the ratio of IL-1β to IL-10 between febrile seizures patients and healthy children. It was concluded that there were significant correlations between IL-1β and IL-10 levels as well as IL-1β to IL-10 ratios in estimating the risk of febrile seizures.

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“…Isolated DNA samples were stored at -80°C after measuring the concentration using a Nanodrop spectrophotometer (ND1000; Thermo Scientific; Waltham, MA, USA) The primers used to identify IL-1β-511 polymorphisms were F5'-TGGCATTGATCTGGTTCATC-3' and R5'-GTTTAGGAATCTTCCCACTT-3', and the IL-6-174-specifically designed primers were F5'-TGACTTCAGCTTTACTCTTTGT-3' and R5'-CTGATTGGAAACCTTATTAAG-3' (Kira et al, 2010;Tiwari et al, 2012). Two polymerase chain reaction (PCR) mixture of 25 mL were prepared for IL-1β-511 and IL-6-174 to amplify the genes from the DNA samples.…”

Section: Genotypingmentioning

confidence: 99%

Genomic analysis of the interleukin-1β-511 and interleukin-6-174 gene polymorphisms in Turkish patients with epilepsy

Gok¹,

Esen²,

Ozlece³

2014

Genet. Mol. Res.

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ABSTRACT. In this study, we examined the frequency of polymorphisms in the interleukin (IL) genes in patients with epilepsy as well as a control group in Kars, Turkey. A total of 100 patients diagnosed with epilepsy and 100 nonepileptic subjects as a control group were examined. Peripheral blood samples were acquired from patients and control subjects for DNA extraction. The target region was amplified using polymerase chain reaction and digested using the restriction enzymes SfaNI and AvaI. Restriction products were extracted from agarose gel electrophoresis and polymorphisms were analyzed using gel images. For IL-1β, the most common genotype among the epilepsy group was the CT genotype with a 62% frequency; the T allele was the most common allele with a frequency of 34%. Among the control group, however, the CT genotype showed a frequency of 25% and the T allele had a 22% frequency. For IL-6-174, among the epilepsy group, the GG genotype prevalence was approximately 42% IL1β-511 and IL6-174 gene polymorphisms in Turkey and G allele prevalence was 46%. The GG genotype was approximately 50% and the G allele was 53% in the control group. Thus, changes in the allele frequency of the T allele of IL-1β-174 may be associated with epilepsy. However, there was no significant difference for the G allele frequency of IL-6-511. A larger sample size should be examined to verify these relationships, which could help to improve the clinical diagnosis and treatment of epilepsy.

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Genetic susceptibility to febrile seizures: Case-control association studies

Cited by 28 publications

References 61 publications

Origins of Temporal Lobe Epilepsy: Febrile Seizures and Febrile Status Epilepticus

Origins of Temporal Lobe Epilepsy: Febrile Seizures and Febrile Status Epilepticus

The Correlation Between IL-1β and IL-10 Levels in Estimating The Risk of Febrile Seizures

Genomic analysis of the interleukin-1β-511 and interleukin-6-174 gene polymorphisms in Turkish patients with epilepsy

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