Dataset Information

Gut Bacterial Dysbiosis in Children with Intractable Epilepsy.

ABSTRACT: A few published clinical studies have evaluated the association between gut microbiota in intractable epilepsy, but with inconsistent results. We hypothesized that the factors associated with the gut bacterial composition, such as age and geography, contributed to the discrepancies. Therefore, we used a cohort that was designed to minimize the effects of possible confounding factors and compared the gut microbiota between children with intractable epilepsy and healthy controls. Eight children with intractable epilepsy aged 1 to 7 years and 32 age-matched healthy participants were included. We collected stool samples and questionnaires on their diet and bowel habits at two time points and analyzed the gut microbiota compositions. In the epilepsy group, the amount of Bacteroidetes was lower (Mann-Whitney test, false discovery rate (FDR) < 0.01) and the amount of Actinobacteria was higher (FDR < 0.01) than in the healthy group. The epilepsy subjects were 1.6- to 1.7-fold lower in microbiota richness indices (FDR < 0.01) and harbored a distinct species composition (p < 0.01) compared to the healthy controls. Species biomarkers for intractable epilepsy included the Enterococcus faecium group, Bifidobacterium longum group, and Eggerthella lenta, while the strongest functional biomarker was the ATP-binding cassette (ABC) transporter. Our study identified gut bacterial dysbiosis associated with intractable epilepsy within the cohort that was controlled for the factors that could affect the gut microbiota.

SUBMITTER: Lee K

PROVIDER: S-EPMC7792797 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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Gut Bacterial Dysbiosis in Children with Intractable Epilepsy.

Lee Kihyun K Kim Namil N Shim Jung Ok JO Kim Gun-Ha GH

Journal of clinical medicine 20201222 1

A few published clinical studies have evaluated the association between gut microbiota in intractable epilepsy, but with inconsistent results. We hypothesized that the factors associated with the gut bacterial composition, such as age and geography, contributed to the discrepancies. Therefore, we used a cohort that was designed to minimize the effects of possible confounding factors and compared the gut microbiota between children with intractable epilepsy and healthy controls. Eight children wi ...[more]

PMID: 33375063

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Project description:PURPOSE:To assess the frequency and clinical features of childhood-onset intractable epilepsy caused by the most common mutations in the POLG gene, which encodes the catalytic subunit of mitochondrial DNA polymerase gamma. METHODS:Children presenting with nonsyndromic intractable epilepsy of unknown etiology but without documented liver dysfunction at presentation were eligible for this prospective, population-based study. Blood samples were analyzed for the three most common POLG mutations. If any of the three tested mutations were found, all the exons and the exon-intron boundaries of the POLG gene were sequenced. In addition, we retrospectively reviewed the notes of patients presenting with intractable epilepsy in which we had found POLG mutations. All available clinical data were collected by questionnaire and by reviewing the medical records. KEY FINDINGS:We analyzed 213 blood DNA samples from patients fulfilling the inclusion criteria of the prospective study. Among these, five patients (2.3%) were found with one of the three common POLG mutations as homozygous or compound heterozygous states. In addition, three patients were retrospectively identified. Seven of the eight patients had either raised cerebrospinal fluid (CSF) lactate (n = 3) or brain magnetic resonance imaging (MRI) changes (n = 4) at presentation with intractable epilepsy. Three patients later developed liver dysfunction, progressing to fatal liver failure in two without previous treatment with sodium valproate (VPA). Furthermore, it is worth mentioning that one patient presented first with an autism spectrum disorder before seizures emerged. SIGNIFICANCE:Mutations in POLG are an important cause of early and juvenile onset nonsyndromic intractable epilepsy with highly variable associated manifestations including autistic features. This study emphasizes that genetic testing for POLG mutations in patients with nonsyndromic intractable epilepsies is very important for clinical diagnostics, genetic counseling, and treatment decisions because of the increased risk for VPA-induced liver failure in patients with POLG mutations. We recommend POLG gene testing for patients with intractable seizures and at least one elevated CSF lactate or suggestive brain MRI changes (predominantly abnormal T2 -weighted thalamic signal) with or without status epilepticus, epilepsia partialis continua, or liver manifestations typical for Alpers disease, especially when the disease course is progressive.

Dataset Information

Gut Bacterial Dysbiosis in Children with Intractable Epilepsy.

Publications

Gut Bacterial Dysbiosis in Children with Intractable Epilepsy.

Similar Datasets

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