Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Focal Epilepsy in Individuals with Laron Syndrome.

ABSTRACT:

Objective

The aim of the study was to describe focal epilepsy in patients with Laron syndrome (LS).

Methods

Data were retrieved from medical records of a single-center cohort of 75 patients with LS.

Results

We describe for the first time 4 patients with concomitant focal epilepsy and LS. Two of them experienced episodes of status epilepticus. Electroencephalogram examination in all 4 patients showed interictal epileptiform discharges in the temporal regions. Three achieved long-term seizure freedom on antiseizure medications.

Conclusion

Patients with LS may be at risk of developing focal epilepsy, which seems to be unrelated to hypoglycemic episodes in childhood.

SUBMITTER: Goldberg L

PROVIDER: S-EPMC9501736 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Focal Epilepsy in Individuals with Laron Syndrome.

Goldberg Lotem L Laron Zvi Z Kornreich Liora L Scheuerman Oded O Goldberg-Stern Hadassa H Kraus Dror D

Hormone research in paediatrics 20220331 3

<h4>Objective</h4>The aim of the study was to describe focal epilepsy in patients with Laron syndrome (LS).<h4>Methods</h4>Data were retrieved from medical records of a single-center cohort of 75 patients with LS.<h4>Results</h4>We describe for the first time 4 patients with concomitant focal epilepsy and LS. Two of them experienced episodes of status epilepticus. Electroencephalogram examination in all 4 patients showed interictal epileptiform discharges in the temporal regions. Three achieved ...[more]

PMID: 35358968

Similar Datasets

Toward gene therapy of Laron syndrome.

Project description: Not available

| S-EPMC9203270 | biostudies-literature

Focal epilepsy human surgical samples

Project description:We identified diffuse lesions made of BRAF V600E-mutant CD34-immunopositive stellar cells in human samples resected to cure drug-resistant focal epilepsy. We performed single-nuclei RNAseq 5' 10X on three human brain samples (two BRAF mutant samples and one BRAF wildtype sample as control) in order to identify the molecular phenotype of CD34+ cells.

2024-03-03 | GSE226815 | GEO

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.

Project description:To identify novel epilepsy genes using a panel approach and describe the functional consequences of mutations.Using a panel approach, we screened 357 patients comprising a vast spectrum of epileptic disorders for defects in genes known to contribute to epilepsy and/or intellectual disability (ID). After detection of mutations in a novel epilepsy gene, we investigated functional effects in Xenopus laevis oocytes and screened a follow-up cohort.We revealed de novo mutations in GRIN2B encoding the NR2B subunit of the N-methyl-D-aspartate (NMDA) receptor in 2 individuals with West syndrome and severe developmental delay as well as 1 individual with ID and focal epilepsy. The patient with ID and focal epilepsy had a missense mutation in the extracellular glutamate-binding domain (p.Arg540His), whereas both West syndrome patients carried missense mutations within the NR2B ion channel-forming re-entrant loop (p.Asn615Ile, p.Val618Gly). Subsequent screening of 47 patients with unexplained infantile spasms did not reveal additional de novo mutations, but detected a carrier of a novel inherited GRIN2B splice site variant in close proximity (c.2011-5_2011-4delTC). Mutations p.Asn615Ile and p.Val618Gly cause a significantly reduced Mg(2+) block and higher Ca(2+) permeability, leading to a dramatically increased Ca(2+) influx, whereas p.Arg540His caused less severe disturbance of channel function, corresponding to the milder patient phenotype.We identified GRIN2B gain-of-function mutations as a cause of West syndrome with severe developmental delay as well as of ID with childhood onset focal epilepsy. Severely disturbed channel function corresponded to severe clinical phenotypes, underlining the important role of facilitated NMDA receptor signaling in epileptogenesis.

| S-EPMC4223934 | biostudies-literature

Three Cases of Hemiconvulsion-Hemiplegia-Epilepsy Syndrome With Focal Cortical Dysplasia Type IIId.

Project description:Hemiconvulsion-hemiplegia-epilepsy syndrome (HHES) is a subset of acute encephalopathy characterized by infantile-onset with acute hemiconvulsive febrile status and subsequent unilateral cerebral atrophy and hemiparesis. In the chronic phase, patients with HHES develop epilepsy, typically displayed as intractable focal seizures. The patients are often intractable with antiepileptic drugs and need surgical treatment. Although viral encephalitis and genetic abnormalities are presumed to be the underlying etiology, the pathogenesis remains mostly unknown. We describe three cases of successful functional hemispherotomy for intractable epilepsy in HHES. Patients developed acute asymmetrical convulsive status following viral infections during the ages of 17-30 months. Their seizures were intractable with antiepileptic drugs and required hemispherotomy. On the basis of the pathological findings, all cases were diagnosed as focal cortical dysplasia (FCD) type IIId. The epileptogenic mild cortical malformations may be the cause of HHES.

| S-EPMC6879674 | biostudies-literature

Mystery case: Cowden syndrome presenting with partial epilepsy related to focal cortical dysplasia.

Project description:A 55-year-old man presented with seizures characterized by "tightening" of the right side and variable loss of awareness. EEG showed focal epileptogenic abnormalities over left and midline central regions. MRI showed left frontal focal cortical dysplasia (figure 1). He had multiple skin lesions (figure 2) and colonoscopy revealed gastrointestinal mucosal ganglioneuromas. Genetic testing of PTEN gene confirmed a diagnosis of Cowden syndrome (CS).

| S-EPMC3795595 | biostudies-literature

Focal epilepsy human surgical samples

Project description:Focal epilepsy human surgical samples

| PRJNA941830 | ENA

Generation of a miniature pig disease model for human Laron syndrome.

Project description:Laron syndrome is a rare disease caused by mutations of the growth hormone receptor (GHR), inheriting in an autosomal manner. To better understand the pathogenesis and to develop therapeutics, we generated a miniature pig model for this disease by employing ZFNs to knock out GHR gene. Three types of F0 heterozygous pigs (GHR(+/4bp), GHR(+/2bp), GHR(+/3bp)) were obtained and in which no significant phenotypes of Laron syndrome were observed. Prior to breed heterozygous pigs to homozygosity (GHR(4bp/4bp)), pig GHR transcript with the 4 bp insert was evaluated in vitro and was found to localize to the cytoplasm rather than the membrane. Moreover, this mutated transcript lost most of its signal transduction capability, although it could bind bGH. GHR(4bp/4bp) pigs showed a small body size and reduced body weight. Biochemically, these pigs exhibited significantly elevated levels of GH and decreased levels of IGF-I. These results resemble the phenotype observed in Laron patients, suggesting that these pigs could serve as an ideal model for Laron syndrome to bridge the gaps between mouse model and human.

| S-EPMC4625145 | biostudies-literature

Human Epilepsy Genetics: Mosaic Mutations in Focal Epilepsy

Project description:Human Epilepsy Genetics: Mosaic Mutations in Focal Epilepsy

| PRJNA1285001 | ENA

Human Epilepsy Genetics: Mosaic Mutations in Focal Epilepsy

Project description:Human Epilepsy Genetics: Mosaic Mutations in Focal Epilepsy

| PRJNA1285000 | ENA

Regional abnormality of functional connectivity is associated with clinical manifestations in individuals with intractable focal epilepsy.

Project description:We explored regional functional connectivity alterations in intractable focal epilepsy brains using resting-state functional MRI. Distributions of the network parameters (corresponding to degree and eigenvector centrality) measured at each brain region for all 25 patients were significantly different from age- and sex-matched control data that were estimated by a healthy control dataset (n = 582, 18-84 years old). The number of abnormal regions whose parameters exceeded the mean + 2 SD of age- and sex-matched data for each patient were associated with various clinical parameters such as the duration of illness and seizure severity. Furthermore, abnormal regions for each patient tended to have functional connections with each other (mean ± SD = 58.6 ± 20.2%), the magnitude of which was negatively related to the quality of life. The abnormal regions distributed within the default mode network with significantly higher probability (p < 0.05) in 7 of 25 patients. We consider that the detection of abnormal regions by functional connectivity analysis using a large number of control datasets is useful for the numerical assessment of each patient's clinical conditions, although further study is necessary to elucidate etiology-specific abnormalities.

| S-EPMC7810833 | biostudies-literature

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