Results 61 to 70 of about 352,372 (280)
Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo +5 more
wiley +1 more source
Avicenna Journal of Medicine, 2020 Background: Febrile seizures are associated with a lot of modifiable and nonmodifiable risk factors. Extensive research is currently going on to discover more and more risk factors of febrile seizures, so that they can be modified to decrease their ...
Jehangir A Bhat +4 more
doaj +1 more source
Scientific Reports, 2018 Dysregulation of voltage-gated sodium channels (VGSCs) is associated with multiple clinical disorders, including febrile seizures (FS). The contribution of different sodium channel subtypes to environmentally triggered seizures is not well understood ...
Mingyu Ye +7 more
semanticscholar +1 more source
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
Pediatric Neurology Briefs, 1991 Waking and sleep EEGs were recorded in 67 siblings of 52 patients with febrile seizures (FS) at the Epilepsy Centre Bethel, Bielefeld, F.R.G.
J Gordon Millichap
doaj +1 more source
Molecular Mechanism Involved in the Pathogenesis of Early-Onset Epileptic Encephalopathy [PDF]
, 2019 Recent studies have shown that neurologic inflammation may both precipitate and sustain seizures, suggesting that inflammation may be involved not only in epileptogenesis but also in determining the drug-resistant profile.
Corsello G +5 more
core +1 more source
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
Prophylactic drug management for febrile seizures in children.
Cochrane Database of Systematic Reviews, 2017 BACKGROUND Febrile seizures occurring in a child older than one month during an episode of fever affect 2% to 4% of children in Great Britain and the United States and recur in 30%.
M. Offringa +3 more
semanticscholar +1 more source
The "plus" side of epilepsy phenotyping [PDF]
, 2017 No abstract ...
Striano, Pasquale, Zuberi, Sameer M.
core +1 more source