Results 61 to 70 of about 165,146 (288)

Neocortex- and hippocampus-specific deletion of Gabrg2 causes temperature-dependent seizures in mice

open access: yesCell Death and Disease, 2021
Mutations in the GABRG2 gene encoding the γ-aminobutyric acid (GABA) A receptor gamma 2 subunit are associated with genetic epilepsy with febrile seizures plus, febrile seizures plus, febrile seizures, and other symptoms of epilepsy.
Xinxiao Li   +11 more
doaj   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio   +4 more
wiley   +1 more source

Febrile seizures [PDF]

open access: yesNeurology, 2012
The investigators wanted to learn more about whether a common condition called “febrile seizures” was harmful to the brain.1 They also looked at whether they could increase the risk of developing epilepsy later. Febrile seizures are defined as seizures that occur in children with a high fever (over 101°F).
openaire   +3 more sources

The Effect of Quercetin on Pro- and Anti-Inflammatory Cytokines in a Prenatally Stressed Rat Model of Febrile Seizures

open access: yesJournal of Experimental Neuroscience, 2017
Febrile seizures are childhood convulsions resulting from an infection that leads to an inflammatory response and subsequent convulsions. Prenatal stress has been shown to heighten the progression and intensity of febrile seizures.
Nombuso Valencia Pearl Mkhize   +2 more
doaj   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

open access: yesAnnals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate   +34 more
wiley   +1 more source

Comparing clinical and biochemical characteristics of febrile seizures in children with and without COVID-19: a retrospective study

open access: yesBMC Infectious Diseases
Background Transmission of COVID-19 is now normalized. There is an association between it and increased incidence of febrile seizures in children. Exploring whether COVID-19 has a specific effect on the clinical and biochemical features of febrile ...
Nanxi Zhu   +8 more
doaj   +1 more source

Vaccines and febrile seizures

open access: yesExpert Review of Vaccines, 2013
Vaccine administration is the second leading cause of febrile seizures (FS). FS occurrence in children is a serious concern because it leads to public apprehension of vaccinations. This review discusses the clinical implications of FS, its potential link to vaccinations and its impact on official recommendations for vaccinations in children.
N. Principi, S. Esposito
openaire   +3 more sources

Febrile seizures in a South Indian district: Incidence and associations

open access: yes, 1997
One thousand four hundred and three children participated in a home-based survey of psychiatric disorders in 8- to 12-year-old children in Calicut District, Kerala, India.
Hackett, L., Bhakta, P., Hackett, R.
core   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

open access: yesArthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz   +13 more
wiley   +1 more source

AMETHYST: A Retrospective Cohort Study of Treatment Patterns and Outcomes in Patients With Glucocorticoid‐Refractory Macrophage Activation Syndrome Complicating Still's Disease

open access: yesArthritis &Rheumatology, EarlyView.
Objective Information is limited on the natural history and current treatment patterns in macrophage activation syndrome (MAS), a life‐threatening hyperinflammatory syndrome complicating Still's disease (systemic juvenile idiopathic arthritis [sJIA] and adult‐onset Still's disease [AOSD]).
Alexei Grom   +21 more
wiley   +1 more source

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