Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Glycine receptor antibody-associated epilepsy in a boy aged 4?years.

ABSTRACT: Our patient was a previously normal boy who presented to his local hospital with an explosive onset of prolonged seizures and encephalopathy. He was treated for a presumed central nervous system infection and initial neuroimaging was normal. Despite treatment with antibiotics and antiepileptic drugs (AEDs), he remained encephalopathic and became ataxic over the next 48?hours, not related to medication. The seizures also proved resistant to treatment despite polytherapy with AEDs, and he required immune-modulatory treatment, intravenous methylprednisolone and intravenous immunoglobulin, in addition to the AEDs to achieve seizure control. The ataxia also improved following treatment. The initial EEG was normal but subsequent EEGs, separated by a week each, were abnormal and revealed subtle atypical 'delta-brush-like waves'. The patient's serum and cerebrospinal fluid were tested for autoantibodies, and he was found to be positive for glycine receptor antibodies that are neuronal antibodies.

SUBMITTER: Ude C

PROVIDER: S-EPMC5073615 | biostudies-other | 2016 Oct

REPOSITORIES: biostudies-other

ACCESS DATA

Json Xml

Publications

Glycine receptor antibody-associated epilepsy in a boy aged 4 years.

Ude Chinwe C Ambegaonkar Gautam G

BMJ case reports 20161019

Our patient was a previously normal boy who presented to his local hospital with an explosive onset of prolonged seizures and encephalopathy. He was treated for a presumed central nervous system infection and initial neuroimaging was normal. Despite treatment with antibiotics and antiepileptic drugs (AEDs), he remained encephalopathic and became ataxic over the next 48 hours, not related to medication. The seizures also proved resistant to treatment despite polytherapy with AEDs, and he required ...[more]

PMID: 27797796

Similar Datasets

Brivaracetam population pharmacokinetics in children with epilepsy aged 1 month to 16 years.

Project description:PurposeThe aims of the study were to develop a population pharmacokinetic model of orally administered brivaracetam in paediatric patients and to provide dosing suggestions.MethodsAnalysis included 600 brivaracetam plasma concentrations from a phase 2a study (NCT00422422; N01263) in 96 paediatric patients with epilepsy aged 1 month to 16 years, taking one to three concomitant antiepileptic drugs (AEDs). Pharmacokinetic analysis was performed using non-linear mixed effects modelling, and a stepwise covariate search was used to determine factors influencing brivaracetam clearance. Simulations were performed to investigate dosing regimens.ResultsThe final model consisted of first-order absorption, single compartment distribution and first-order elimination components with allometric scaling of clearance and volume using lean body weight and fixed allometric exponents. Co-administration with phenobarbital or carbamazepine was associated with a 29% (95%CI 17%/39%) and 32% (22%/42%) decrease in exposure, respectively. Co-administration with valproate was associated with an 11% (1%/23%) increase in exposure. Simulations demonstrated that the majority of children were predicted to have an exposure similar to that in adults, using an age-independent dosing regimen of 2.0 mg/kg bid with a maximum of 100 mg bid for body weight >50 kg.ConclusionsA paediatric dose adaptation of 2.0 mg/kg twice daily with a maximum of 100 mg twice daily for body weight >50 kg is predicted to ensure steady-state plasma concentrations in the same range as in adult patients receiving 100 mg twice daily (highest recommended dose). Data suggest no need to change brivaracetam dosing when used concomitantly with carbamazepine, phenobarbital or valproate.

| S-EPMC5423986 | biostudies-literature

Boy-Girl Differences in Pictorial Verbal Learning in Students Aged 8-12 Years and the Influence of Parental Education.

Project description:This large-scale cross-sectional study of schoolchildren aged 8-12 years (N = 152) evaluates two factors which potentially determine individual differences in intentional learning: the child's sex and parental education. Intentional learning was assessed with a newly constructed Pictorial Verbal Learning Task (PVLT). This task presents line drawings of concrete objects as to-be-remembered information instead of written or auditory presented words. The PVLT has the advantage that performance is not confounded by individual differences in reading or hearing abilities. Results revealed clear sex differences in performance: Girls outperformed boys. Parental education also contributed to individual differences in performance since children of higher educated parents outperformed children of lower educated parents. The results therefore suggest that both sex and parental education could be potent contributors to individual differences in learning performance at school. The findings more specifically imply that children of less educated parents and boys need additional guidance and support in intentional learning when new information and procedures are presented for the first time.

| S-EPMC6092633 | biostudies-literature

Array-CGH in a boy with an occurrence of neurodevelopmental disorders and epilepsy

Project description:This analysis includes the whole-genome screening of unbalanced chromosomal rearrangements (copy-number variants; CNV) in a boy with neurodevelopmental disorders and epilepsy.

2020-01-31 | E-MTAB-8147 | biostudies-arrayexpress

LGI1-antibody associated epilepsy successfully treated in the outpatient setting.

Project description:We report six patients with anti-LGI1 associated epilepsy. Two patients presented with new-onset generalized tonic-clonic seizures, four developed faciobrachial dystonic seizures and two piloerection. All patients had significant cognitive complaints at the time of diagnosis. All patients described seizure reduction during the first week of carbamazepine, and seizure freedom was obtained at a median of 13?days (range 7-22), sustained after the initiation of immunosuppression. Median time from symptom onset to carbamazepine initiation was 164?days (range 38-206?days). We discuss the particular seizure response to sodium channel blocking antiepileptic drugs, alone or associated with immunosuppression in this antibody mediated seizures.

| S-EPMC7339132 | biostudies-literature

GAD antibody-associated epilepsy: T cells kill neurons, plasma cells and antibodies are bystanders

Project description:We compared temporal lobe tissue from patients with GAD65 antibody associated temporal lobe epilepsy to control tissue transcriptomically and histopathologically and evaluated clincal data

2022-12-31 | GSE209793 | GEO

Complex Neurological Phenotype Associated with a De Novo <i>DHDDS</i> Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder.

Project description:Mutations in the DHDDS gene (MIM: 617836), encoding a subunit of dehydrodolichyl diphosphate synthase complex, have been recently implicated in very rare neurodevelopmental diseases. In total, five individuals carrying two de novo mutations in DHDDS have been reported so far, but genotype-phenotype correlations remain elusive. We reported a boy with a de novo mutation in DHDDS (NM_205861.3: c.G632A; p.Arg211Gln) featuring a complex neurological phenotype, including mild intellectual disability, impaired speech, complex hyperkinetic movements, and refractory epilepsy. We defined the electroclinical and movement disorder phenotype associated with the monoallelic form of the DHDDS -related neurodevelopmental disease and possible underlying dominant-negative mechanisms.

| S-EPMC8416192 | biostudies-literature

Lifestyle and reproductive risk factors associated with anal cancer in women aged over 50 years.

Project description:Anal cancer incidence increases with age and is higher in women than men. Risk factors in this group other than high-risk human papillomavirus infection are unclear.In all, 1.3 million women were recruited in 1996-2001 and followed for incident anal cancer. Cox regression models were used to calculate relative risks (RRs) for anal cancer by various potential risk factors.Five hundred and seventeen incident anal cancers were registered over 13 years of follow-up. The largest RR was associated with a history of cervical intraepithelial neoplasia grade 3 (CIN 3; RR=4.03, 95% CI 2.59-6.28). Other factors associated with significantly increased risks in multivariate analyses were: ever smoking (RR=1.49, 1.24-1.80); previous use of oral contraceptives (RR=1.51, 1.24-1.83); nulliparity (RR=1.61, 1.24-2.07); tubal ligation (RR=1.39, 1.13-1.70) and not living with a partner (RR=1.82, 1.40-2.38). The association with smoking was significantly greater for squamous cell carcinoma than adenocarcinoma of the anus (RR 1.66 vs 0.89, P for heterogeneity=0.04).History of CIN 3, smoking, past oral contraceptive use, nulliparity, tubal ligation and not living with a partner are risk factors for anal cancer in women. There was a significant increase in risk associated with smoking for squamous cell anal cancers but not adenocarcinomas.

| S-EPMC4453684 | biostudies-other

Cost-Effectiveness of Influenza Vaccination Strategies in Adults: Older Adults Aged ≥65 Years, Adults Aged 50-64 Years, and At-Risk Adults Aged 19-64 Years.

Project description:The high disease burden of influenza in elderly and chronically ill adults may be due to the suboptimal effectiveness and mismatch of the conventional trivalent influenza vaccine (TIV). This study evaluated the cost-effectiveness of quadrivalent (QIV), adjuvanted trivalent (ATIV), and high-dose quadrivalent (HD-QIV) vaccines versus TIV used under the current Korean National Immunization Program (NIP) in older adults aged ≥65 years. We also evaluated the cost-effectiveness of programs for at-risk adults aged 19-64 and adults aged 50-64. A one-year static population model was used to compare the costs and outcomes of alternative vaccination programs in each targeted group. Influenza-related parameters were derived from the National Health Insurance System claims database; other inputs were extracted from the published literature. Incremental cost-effectiveness ratios (ICERs) were assessed from a societal perspective. In the base case analysis (older adults aged ≥65 years), HD-QIV was superior, with the lowest cost and highest utility. Compared with TIV, ATIV was cost-effective (ICER $34,314/quality-adjusted life-year [QALY]), and QIV was not cost-effective (ICER $46,486/QALY). The cost-effectiveness of HD-QIV was robust for all parameters except for vaccine cost. The introduction of the influenza NIP was cost-effective or even cost-saving for the remaining targeted gr3oups, regardless of TIV or QIV.

| S-EPMC8955502 | biostudies-literature

Characterization of the Zebrafish Glycine Receptor Family Reveals Insights Into Glycine Receptor Structure Function and Stoichiometry.

Project description:To study characterization of zebrafish glycine receptors (zGlyRs), we assessed expression and function of five ?- and two ß-subunit encoding GlyR in zebrafish. Our qPCR analysis revealed variable expression during development, while in situ hybridizations uncovered expression in the hindbrain and spinal cord; a finding consistent with the reported expression of GlyR subunits in these tissues from other organisms. Electrophysiological recordings using Xenopus oocytes revealed that all five ? subunits form homomeric receptors activated by glycine, and inhibited by strychnine and picrotoxin. In contrast, ß subunits only formed functional heteromeric receptors when co-expressed with ? subunits. Curiously, the second transmembranes of both ß subunits were found to lack a phenylalanine at the sixth position that is commonly associated with conferring picrotoxin resistance to heteromeric receptors. Consistent with the absence of phenylalanines at the sixth position, heteromeric zGlyRs often lacked significant picrotoxin resistance. Subsequent efforts revealed that resistance to picrotoxin in both zebrafish and human heteromeric GlyRs involves known residues within transmembrane 2, as well as previously unknown residues within transmembrane 3. We also found that a dominant mutation in human GlyR?1 that gives rise to hyperekplexia, and recessive mutations in zebrafish GlyRßb that underlie the bandoneon family of motor mutants, result in reduced receptor function. Lastly, through the use of a concatenated construct we demonstrate that zebrafish heteromeric receptors assemble with a stoichiometry of 3?:2ß. Collectively, our findings have furthered our knowledge regarding the assembly of heteromeric receptors, and the molecular basis of ß subunit-conferred picrotoxin resistance. These results should aid in future investigations of glycinergic signaling in zebrafish and mammals.

| S-EPMC6130310 | biostudies-literature

Comparison of expression profile between fibroblasts taken from young (23 years old) and aged (70 years old) donors

Project description:Several features differentiate aged cells from young cells, many of which are due to changes in gene expression during the aging process. The mechanisms of altered gene expression in aging cells remain incompletely understood, and we hypothesized that long non-coding (lnc) RNAs mediate at least some of these changes. To determine candidate lncRNAs which are associated with aging process, we screened for alterations in lncRNA expression with aging in skin fibroblasts. Twenty-eight lncRNAs were found to be expressed more than 2-fold in aged fibroblasts, and thirty-five lncRNAs expressed less than 0.5-fold.

2018-07-24 | GSE117545 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data