6,137 results match your criteria: "Febrile Seizures"

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.

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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.

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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.

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Two-year mortality and seizure recurrence following status epilepticus in Auckland, New Zealand: A prospective cohort study.

Seizure

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:

Article Synopsis
  • The study tracked the 2-year mortality and seizure recurrence rates in patients with status epilepticus (SE) identified over a one-year period in the Auckland region.
  • Out of 367 identified patients, 335 were followed up, revealing a 2-year all-cause mortality rate of 14.9% and a seizure recurrence rate of 58.8%.
  • Key findings indicated that younger patients, particularly preschoolers, and those with febrile SE had lower mortality, while older individuals and those with prolonged SE had higher mortality and recurrence rates.
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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.

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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.

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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.

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[Discontinuation of antiseizure medication in patients with epilepsy].

Nervenarzt

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.

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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.

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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.

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Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.

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.

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variants are associated with generalised epilepsy preceded by febrile seizures.

J 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

Article Synopsis
  • Variants linked to immune-related disorders and seizures may also be related to common epilepsy, but their specific role and underlying mechanisms remain unclear.
  • Trio-based whole-exome sequencing identified both de novo and biallelic missense variants in patients with generalized epilepsy following febrile seizures, with varying effects on seizure types and neurological outcomes based on the location of the variants.
  • The study suggests a genotype-phenotype correlation, indicating that different variants can lead to distinct seizure presentations and neurological conditions, particularly emphasizing early onset and favorable outcomes in some patients.
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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.

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Article Synopsis
  • Temporal encephaloceles (TE) are a lesser-known cause of epilepsy that can be surgically treated, and this systematic review compiles data on their clinical characteristics and treatment outcomes.
  • The analysis included 24 studies with a total of 423 patients, finding that TE patients typically have later seizure onset, different seizure patterns, and a greater incidence of idiopathic intracranial hypertension (IIH) compared to those without TE.
  • Surgical interventions show promising outcomes, with a 75-85% success rate for different surgical techniques, indicating that better recognition and understanding of TE could improve epilepsy management.
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Population-Based Analysis of 6534 Seizure Emergency Cases from Emergency Medical Services Data.

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.

Article Synopsis
  • This study investigates the prevalence and impact of seizure cases in emergency medical settings in Hesse, Germany, focusing on how often they occur, hospital admissions, and the financial implications.
  • In 2019, there were over 6,500 suspected seizure cases, predominantly involving individuals already diagnosed with seizure disorders, with significant hospitalization rates and emergency physician involvement.
  • The estimated costs associated with seizure cases in Germany for that year were around 56.6 million euros, highlighting both the medical and economic burden of seizure-related emergencies.
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Article Synopsis
  • Most children with febrile seizures (FS) generally have a good outlook, but some may experience a recurrence within 1-3 years, influenced by risk factors like age, temperature, and family history.
  • A study in Nantong, China, analyzed 463 children with FS to identify risk factors and developed a prediction model based on their data.
  • Results showed that younger age, longer duration of the first seizure, and higher peak temperature significantly increase the risk of FS recurrence, emphasizing the need for further research.
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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.

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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.

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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.

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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.

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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.

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Neurological involvement related to the influenza virus in children: A 5-year single-centre retrospective study.

Eur 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.

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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.

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Article Synopsis
  • The study aimed to analyze the clinical profile and outcomes of expanded dengue syndrome (EDS) in children diagnosed with dengue fever over a year.
  • Out of 178 children, 33 (18.5%) presented EDS, with neurological issues being the most common, followed by gastrointestinal and renal complications.
  • Children with EDS showed higher rates of anemia, leukocytosis, and severe symptoms compared to those without EDS, indicating a trend toward increased mortality and longer hospital stays.
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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.

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