Results 71 to 80 of about 355,558 (363)
Annals of Neurology, EarlyView.Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker +79 more
wiley +1 more source
Expert 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 +1 more
openaire +4 more sources
Vaccinations and febrile seizures [PDF]
Epilepsia, 2011 SummaryThe occurrence of seizures related to fever results from complex interactions among genetic and environmental factors. The issue of the relationship between vaccination and febrile seizures is complex. It is difficult to identify whether the febrile seizures result from a nonspecific fever caused by vaccination or if these are secondary to an ...
Raman Sankar, Fernando Cendes
openaire +3 more sources
HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
Annals of Neurology, EarlyView.Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer +52 more
wiley +1 more source
Association of Iron Deficiency Anaemia and Febrile Seizures in Children
Journal of Rawalpindi Medical College, 2013 deficiency anaemia with febrile seizures. Methods: In this descriptive study 100 patients were selected. Out of these 100 subjects, 50 were control who had fever but did not have seizures and 50 were cases presenting with febrile seizures. Serum ferritin
Tariq Saeed
doaj
Copeptin as a serum biomarker of febrile seizures. [PDF]
PLoS ONE, 2015 Accurate diagnosis of febrile seizures in children presenting after paroxysmal episodes associated with fever, is hampered by the lack of objective postictal biomarkers.
Benjamin Stöcklin +7 more
doaj +1 more source
British Journal of Clinical Pharmacology, EarlyView.Aims To optimize antibiotic therapy for pathogens classified as susceptible, increased exposure (I), an increased exposure of piperacillin/tazobactam (PTZ) is required. However, dosing recommendations are currently only available for patients with normal renal function.
Emma Dohmann +5 more
wiley +1 more source
The "plus" side of epilepsy phenotyping [PDF]
, 2017 No abstract ...
Striano, Pasquale, Zuberi, Sameer M.
core +1 more source
The Genetics of Febrile Seizures
Pediatric Neurology Briefs, 2015 Investigators from Virginia Commonwealth University, Norwegian Center for Epilepsy and University of Southern Denmark carried out twin studies to analyse the genetic influence of developing epilepsy after febrile seizures.
Richard W Newton, D. Ram
openaire +5 more sources
ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus
Frontiers in Molecular Neuroscience, 2022 PurposeTo identify novel genetic causes of febrile seizures (FS) and epilepsy with febrile seizures plus (EFS+).MethodsWe performed whole-exome sequencing in a cohort of 32 families, in which at least two individuals were affected by FS or EFS+. The probands, their parents, and available family members were recruited to ascertain whether the genetic ...
Yang Tian +22 more
openaire +3 more sources