Cureus
July 2024
Pediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
If the sodium voltage-gated channel alpha subunit 1 () gene, which encodes Nav1.1 protein, undergoes pathological mutation, it results in a wide range of epileptic syndrome, including febrile seizure, genetic epilepsy with febrile seizure plus (GEFS+), and developmental and epileptic encephalopathy (DEE), including Dravet syndrome. We present the case of a five-and-a-half-month-old boy with gene-related epileptic seizures, starting as focal seizures and progressing to generalized tonic-clonic seizures.
View Article and Find Full Text PDFJ Pediatr Nurs
September 2024
Faculty of Nursing, Al al-Bayt University, Irbid, Jordan.
Background: Febrile seizures are the most common type of convulsions affecting children aged six months to five years. However, febrile seizures can be difficult to identify due to the vague nature of the symptoms, which can lead to incorrect diagnosis and treatment. Thus, this study explores febrile seizure-related uncertainty, knowledge, and anxiety among mothers.
View Article and Find Full Text PDFMed J Malaysia
July 2024
Hospital Tuanku Ja'afar, Jalan Rasah, Negeri Sembilan, Ministry of Health Malaysia, Malaysia.
Introduction: Febrile seizures in children can be associated with various underlying conditions, including COVID-19. Differentiating COVID-19 and non-COVID-19 related febrile seizures is crucial for tailored patient management and for implementing appropriate infection control measures to prevent nosocomial transmission. This study aimed to describe the clinical features of children hospitalised for COVID-19 and non-COVID-19 febrile seizures and to identify factors that differentiate between the two groups.
View Article and Find Full Text PDFSeizure
October 2024
Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Grafton, Auckland, New Zealand; Centre for Brain Research, University of Auckland, Auckland, New Zealand. Electronic address:
Rev Assoc Med Bras (1992)
July 2024
Balıkesir University, Faculty of Medical, Department of Gynecology and Obstetrics, Division of Perinatology - Balıkesir, Turkey.
Objective: The aim of this study was to evaluate the association between nutritional status, inflammation, and susceptibility to seizures in febrile children.
Methods: This observational single-center study was carried out from January 2020 to December 2023 with 324 children aged 6 months and 6 years; 106 were diagnosed with febrile seizure, 108 were febrile children, and 110 were healthy controls. The prognostic nutritional index and neutrophil-to-lymphocyte ratio were calculated, and the cutoff threshold was established through receiver operating characteristics.
Epilepsia
September 2024
Neurosciences Unit, Queensland Children's Hospital, Brisbane, Queensland, Australia.
Objective: Historically, epilepsy has been the most frequently presenting feature of tuberous sclerosis complex (TSC). Advances in TSC health care have occurred over the past decade; thus, we studied whether TSC epilepsy outcomes have changed.
Method: A retrospective chart review was undertaken for all children with TSC in Queensland, Australia.
is the leading cause of morbidity and mortality in the genus . It mostly causes nosocomial infections, especially in children, the elderly and those with underlying diseases. However, cases of community-acquired bacteraemia caused by have been reported.
View Article and Find Full Text PDFNervenarzt
December 2024
Epilepsie-Zentrum Berlin-Brandenburg, Klinik für Neurologie mit Experimenteller Neurologie, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Deutschland.
Background: Approximately two thirds of patients with epilepsy become seizure-free with antiseizure medication (ASM). A central question is whether and when ASM can be discontinued.
Objective: To present an overview of the current knowledge about risks and benefits of discontinuation of ASM.
BMC Infect Dis
July 2024
Institute for Global Health and Infectious Diseases, University of North Carolina at Chapel Hill, NC, 27599, Chapel Hill, USA.
Background: Ehrlichiosis is a potentially fatal tick-borne disease that can progress to involve the central nervous system (CNS) (i.e., neuro-ehrlichiosis), particularly in cases where diagnosis and treatment are delayed.
View Article and Find Full Text PDFAnn Clin Transl Neurol
September 2024
Department of Neurosurgery, Emory University, Atlanta, Georgia, USA.
Objective: To predict one-year seizure freedom, using a combination of relevant clinical variables, following stereotactic laser amygdalohippocampotomy for mesial temporal lobe epilepsy in a series of 101 patients.
Methods: Eight predictors of seizure freedom were selected based on their association with medial temporal lobe epilepsy: (1) MRI evidence of mesial temporal sclerosis (MTS); (2) unitemporal interictal epileptiform discharges; (3) absence of generalized tonic-clonic seizures; (4) history of febrile seizures; (5) onset of epilepsy ≤16 years; (6) absence of an auditory, visual, or vertiginous aura; and (7) unitemporal ictal onset; (8) unitemporal PET hypometabolism. We compared four multivariate models: "MTS," using just evidence of MTS; "FULL," using all eight binary predictors; "AIC" using backwards selection of variables; and "SCORE," using a 0-to-8-point ordinal score awarding one point for each binary predictor.
EBioMedicine
August 2024
Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia (Member of the ERN EpiCARE), Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark. Electronic address:
Background: Variants in GABRB2, encoding the β2 subunit of the γ-aminobutyric acid type A (GABA) receptor, can result in a diverse range of conditions, ranging from febrile seizures to severe developmental and epileptic encephalopathies. However, the mechanisms underlying the risk of developing milder vs more severe forms of disorder remain unclear. In this study, we conducted a comprehensive genotype-phenotype correlation analysis in a cohort of individuals with GABRB2 variants.
View Article and Find Full Text PDFJ Med Genet
August 2024
Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong, China
Epilepsy Behav
September 2024
Department of Pediatrics, Division of Pediatric Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkiye.
Background: Variants in sodium channel genes (SCN) are strongly associated with epilepsy phenotypes. Our aim in this study to evaluate the genotype and phenotype correlation of patients with SCN variants in our tertiary care center.
Methods: In this retrospective study, patients with SCN variants and epilepsy who were followed up at our clinic between 2018 and 2022 were evaluated.
Epilepsy Behav
September 2024
Department of Neurology, Penn Epilepsy Center, Hospital of the University of Pennsylvania, Philadelphia, PA, USA. Electronic address:
Neurol Ther
October 2024
Goethe University Frankfurt, Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, University Medicine Frankfurt, Schleusenweg 2-16, 60528, Frankfurt am Main, Germany.
BMC Pediatr
July 2024
Department of Pediatrics, Affiliated Hospital of Nantong University, No.20 Xisi Rd, Nantong, Jiangsu, 226001, China.
Viruses
June 2024
Discipline of Pediatrics, Faculty of Dentistry, Carol Davila University of Medicine and Pharmacy, 17-23 Plevnei Road, 010221 Bucharest, Romania.
This study analyzed the neurological manifestation profiles of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection across pandemic waves in pediatric patients. The study collected data on patients aged between 0 and 18 years, diagnosed with acute SARS-CoV-2 infection, admitted to a pediatric tertiary hospital between 1 March 2020 and 28 February 2023. This study included 1677 patients.
View Article and Find Full Text PDFDev Med Child Neurol
January 2025
Department of Pediatrics, Affiliated Hospital of Zunyi Medical University, Zunyi, China.
Aim: To expand the phenotypic spectrum of ADGRL1 and explore the correlation between epilepsy and the ADGRL1 genotype.
Method: We performed whole-exome sequencing in a cohort of 115 families (including 195 males and 150 females) with familial febrile seizure or epilepsy with unexplained aetiology. The damaging effects of variants was predicted using protein modelling and multiple in silico tools.
Pediatr Neurol
August 2024
Paediatric Emergency Service, La Paz University Hospital, Madrid, Spain.
Background: Although respiratory symptoms are the most prominent manifestations of coronavirus disease 2019 (COVID-19), severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), and especially the omicron variant, may cause neurological manifestations such as seizures. It remains unclear if specific variants of the virus increase the risk of seizures more than others.
Material And Methods: This was a retrospective multicenter study of pediatric (zero to 16 years) patients with COVID-19 who attended five pediatric emergency departments in Madrid, Spain, between March 2020 and July 2022.
Clin Genet
October 2024
Department of Psychology, Tarleton State University, Stephenville, Texas, USA.
To comprehensively investigate the neurodevelopmental profile and clinical characteristics associated with SETBP1 haploinsufficiency disorder (SETBP1-HD) and SETBP1-related disorders (SETBP1-RD). We reported genetic results on 34 individuals, with behavior and clinical data from 22 with SETBP1-HD and 5 with SETBP1-RD, by assessing results from medical history interviews and standardized adaptive, clinical, and social measures provided from Simons Searchlight. All individuals with SETBP1-HD and SETBP1-RD exhibited neurological impairments including intellectual disability/developmental delay (IDD), attention-deficit/hyperactivity disorder, autism spectrum disorder, and/or seizures, as well as speech and language delays.
View Article and Find Full Text PDFDegener Neurol Neuromuscul Dis
June 2024
Department of Pediatrics, Government Medical College, Omandurar, Government Estate, Chennai, Tamilnadu, India.
Background: X-linked adrenoleukodystrophy (ALD) is a rare genetic disorder caused by a pathogenic variant of the ABCD1 gene, leading to impaired peroxisomal function and the accumulation of very long-chain fatty acids (VLCFAs). ALD presents a wide range of neurological and adrenal symptoms, ranging from childhood cerebral adrenoleukodystrophy to adrenomyeloneuropathy and adrenal insufficiency. Newborn screening (NBS) for ALD is available in some regions but remains lacking in others, such as India.
View Article and Find Full Text PDFEur J Paediatr Neurol
July 2024
Department of Paediatric Neurology, Toulouse Children's Hospital, 330 Avenue de Grande Bretagne, 31300, Toulouse, France. Electronic address:
Introduction: Inflammation related to influenza virus infection can lead to multiple neurological presentations. Encephalitis is one of them, mostly accompanied by seizures, with different profiles depending on the epidemics and previous medical conditions.
Materials And Methods: All children presenting neurological symptoms and positive for influenza virus RNA detection in a respiratory sample between November 2018 and April 2023, hospitalized in the Department of Paediatric Neurology of Toulouse Children's Hospital, were retrospectively analysed.
J Hum Genet
November 2024
Department of Chemistry and Biological Science, College of Science and Engineering, Aoyama Gakuin University, Sagamihara, 252-5258, Japan.
Glycosylphosphatidylinositol (GPI)-anchored proteins are located at the cell surface by a covalent attachment between protein and GPI embedded in the plasma membrane. This attachment is catalyzed by GPI transamidase comprising five subunits (PIGK, PIGS, PIGT, PIGU, and GPAA1) in the endoplasmic reticulum. Loss of either subunit of GPI transamidase eliminates cell surface localization of GPI-anchored proteins.
View Article and Find Full Text PDFPediatr Infect Dis J
June 2024
From the Department of Pediatrics, Government Medical College and Hospital, Chandigarh, India.
J Hum Genet
September 2024
Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, China.
Variants in voltage-gated sodium channel (VGSC) genes are implicated in seizures, epilepsy, and neurodevelopmental disorders, constituting a significant aspect of hereditary epilepsy in the Chinese population. Through retrospective analysis utilizing next-generation sequencing (NGS), we examined the genotypes and phenotypes of VGSC-related epilepsy cases from a cohort of 691 epilepsy subjects. Our findings revealed that 5.
View Article and Find Full Text PDF© LitMetric 2025. All rights reserved.