keyword
https://read.qxmd.com/read/38495552/corrigendum-atp6v0c-is-associated-with-febrile-seizures-and-epilepsy-with-febrile-seizures-plus
#21
Yang Tian, Qiong-Xiang Zhai, Xiao-Jing Li, Zhen Shi, Chuan-Fang Cheng, Cui-Xia Fan, Bin Tang, Ying Zhang, Yun-Yan He, Wen-Bin Li, Sheng Luo, Chi Hou, Wen-Xiong Chen, Wei-Ping Liao, Jie Wang
[This corrects the article DOI: 10.3389/fnmol.2022.889534.].
2024: Frontiers in Molecular Neuroscience
https://read.qxmd.com/read/38492461/perampanel-for-the-treatment-of-epilepsy-with-genetic-aetiology-real-world-evidence-from-the-permit-extension-study
#22
JOURNAL ARTICLE
Norman Delanty, Rajiv Mohanraj, Rohit Shankar, Tim Wehner, Linda J Stephen, Wendyl D'Souza, Sheri Cappucci, Rob McMurray, Ricardo Sainz-Fuertes, Vicente Villanueva
Genetic factors contribute to the aetiology of epilepsy in >50% of cases, and information on the use of antiseizure medications in people with specific aetiologies will help guide treatment decisions. The PERMIT Extension study pooled data from two real-world studies (PERMIT and PROVE) to investigate the effectiveness and safety/tolerability of perampanel (PER) when used to treat people with focal and generalised epilepsy in everyday clinical practice. This post-hoc analysis of PERMIT Extension explored the use of PER when used to treat individuals presumed to have epilepsy with a genetic aetiology...
March 2, 2024: Epilepsy Research
https://read.qxmd.com/read/38478927/characteristics-and-risk-factors-of-central-nervous-system-infection-in-children-with-febrile-seizures
#23
JOURNAL ARTICLE
Daniel Almeida do Valle, Luisa Carolina Vinhal Costa, Amanda Perin Fregonese, Dannyelle Heloize Leite da Silva, Giovana Kellen Souza Maldonado, Letícia Tozzini Tavares da Silva, Mylena da Silva Couto
OBJECTIVE: The aim of the present study is to evaluate the necessity of performing lumbar puncture in patients experiencing febrile seizures, considering the epidemiology specific to Brazil. METHODS: A retrospective cross-sectional study was performed from January 2017 to December 2021. RESULTS: A total of 469 children with seizure and fever were analyzed. The identified event was the first in 65.9% (n = 309). A total of 54.2% (n = 254) of patients had a simple febrile seizure...
March 14, 2024: Pediatric Emergency Care
https://read.qxmd.com/read/38476416/scrub-typhus-with-opsoclonus-myoclonus-ataxia-seizure-as-primary-presentations
#24
Sumirini Puppala, Abhijit Acharya, Surjyaprakash S Choudhury
Scrub typhus is a simple acute febrile illness with rash or an eschar, with up to one-fifth of the patients complicated with the nervous system. Hence, certain cases present to physicians with rather a different systemic manifestation and incidentally have been diagnosed with scrub typhus. We present two such cases of scrub typhus with neurological manifestations. The first case was of a 14-year-old boy with no previous history of any comorbidities who presented with bilateral opsoclonus with multifocal spontaneous myoclonus with cerebellar ataxia with a preceding history of fever and acute gastroenteritis...
2024: Journal of Neurosciences in Rural Practice
https://read.qxmd.com/read/38467734/ascorbic-acid-mitigates-the-impact-of-oxidative-stress-in-a-human-model-of-febrile-seizure-and-mesial-temporal-lobe-epilepsy
#25
JOURNAL ARTICLE
Stefania Scalise, Clara Zannino, Valeria Lucchino, Michela Lo Conte, Vittorio Abbonante, Giorgia Lucia Benedetto, Mariangela Scalise, Antonio Gambardella, Elvira Immacolata Parrotta, Giovanni Cuda
Prolonged febrile seizures (FS) in children are linked to the development of temporal lobe epilepsy (MTLE). The association between these two pathologies may be ascribed to the long-term effects that FS exert on neural stem cells, negatively affecting the generation of new neurons. Among the insults associated with FS, oxidative stress is noteworthy. Here, we investigated the consequences of exposure to hydrogen peroxide (H2 O2 ) in an induced pluripotent stem cell-derived neural stem cells (iNSCs) model of a patient affected by FS and MTLE...
March 11, 2024: Scientific Reports
https://read.qxmd.com/read/38461760/efficacy-and-safety-of-ketamine-for-pediatric-and-adolescent-super-refractory-status-epilepticus-and-the-effect-of-cerebral-inflammatory-conditions
#26
JOURNAL ARTICLE
Ichiro Kuki, Takeshi Inoue, Masataka Fukuoka, Megumi Nukui, Hideo Okuno, Kiyoko Amo, Yasunori Otsuka, Junichi Ishikawa, Hiroshi Rinka, Atushi Ujiro, Masao Togawa, Masashi Shiomi, Shin Okazaki
OBJECTIVE: To investigate the short-term benefits and adverse effects of ketamine in the treatment of pediatric and adolescent super-refractory status epilepticus (SRSE), with a focus on the inflammatory etiology. METHODS: This retrospective observational cohort study included a consecutive series of 18 pediatric to adolescent patients with SRSE admitted between 2008 and 2023 and treated with ketamine. Seizure frequency per hour before and after ketamine administration and response rate were calculated...
March 6, 2024: Journal of the Neurological Sciences
https://read.qxmd.com/read/38458101/higher-risk-of-psychiatric-disorders-in-children-with-febrile-seizures-a-nationwide-cohort-study-in-taiwan
#27
JOURNAL ARTICLE
Der-Shiun Wang, Chi-Hsiang Chung, Wan-Fu Hsu, Shyi-Jou Chen, Der-Ming Chu, Wu-Chien Chien, Nian-Sheng Tzeng, Hueng-Chuen Fan
BACKGROUND: Febrile seizures occur commonly in children aged between six months and six years. A previous Danish study found a positive correlation between febrile seizures and the overall incidence of psychiatric disorders. This population-based nationwide observational study was conducted to investigate the association between febrile seizures and different psychiatric disorders in Taiwan and the associated risk factors. METHODS: This cohort study used data from the National Health Insurance Research Database in Taiwan-a nationwide claims database covering >99% of the Taiwanese population...
February 17, 2024: Pediatric Neurology
https://read.qxmd.com/read/38456990/the-protective-effect-of-breastfeeding-on-febrile-seizures-a-systematic-review-with-meta-analysis
#28
REVIEW
Maria Carolina Rocha Muniz, Rian Vilar Lima, Víctor Queirós Calheiros Campelo Maia, Arthur Meneses Bezerra, Isabela Franco Freire, Manuela Cavalcante Coling Lima, Yuri Marques Teixeira Matos, Letícia Pinheiro Pontes, Ana Nery Melo Cavalcante
Several potential risk factors have been identified in the etiopathogenesis of febrile seizures (FS), including the type and extent of breastfeeding (BF). Given the lack of conclusive data, this study aims to systematically evaluate the evidence on the association between BF and FS. We conducted a systematic review and meta-analysis according to PRISMA guidelines. The search was conducted using descriptors for FS, BF, and formula feeding in MEDLINE, Embase, and Web of Science databases. We included observational studies that compared the incidence of FS between those who had ever breastfed and those who were formula fed...
March 8, 2024: European Journal of Pediatrics
https://read.qxmd.com/read/38455856/cerebral-venous-sinus-thrombosis-due-to-desogestrel-intake-in-a-young-lady-a-case-report
#29
Deepak Sharma, Jay Tewari, Shubhajeet Roy, Paras Sisodia, Anadika Rana, Virendra Atam, Md Al Hasibuzzaman
Cerebral Venous Sinus Thrombosis (CVST) is a subtype of venous thromboembolism, which occurs in the dural venous sinuses. Blockage of the venous drainage of the brain leads to the development of hemorrhages. Strokes can hence develop in any individual, irrespective of age or sex. CVST is a very serious condition requiring immediate thrombolysis to prevent residual neurological deficits. We report the case of a lady aged 25 years, who presented to the emergency department with a severe diffuse headache for 4 days, associated with vomiting...
March 2024: Clinical Case Reports
https://read.qxmd.com/read/38454227/parents-knowledge-and-management-of-fever-parents-versus-fever
#30
JOURNAL ARTICLE
Taylan Çelik, Yusuf Güzel
OBJECTIVE: Parents' lack of knowledge about fever causes fear and incorrect practices. This study aims to investigate the fever knowledge level, concerns, and practices of parents of preschool children. MATERIALS AND METHODS: In this descriptive, cross-sectional study, conducted between July 2021 and July 2022, a survey was conducted among parents of children aged 6 months to 5 years who did not have a history of febrile seizure and/or chronic disease, either in themselves or their siblings...
March 2024: Turkish archives of pediatrics
https://read.qxmd.com/read/38448015/-analysis-of-three-chinese-pedigrees-affected-with-genetic-epilepsy-with-febrile-seizures-plus-due-to-variants-of-scn1a-gene
#31
JOURNAL ARTICLE
Zhigang Yang, Yuan Wang, Guohong Chen, Lifang Song, Yanli Ma, Weihua Zhang
OBJECTIVE: To analyze the clinical and genetic characteristics of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus (GEFS+). METHODS: Three GEFS+ probands and their pedigree members presented at the Children's Hospital of Zhengzhou University from January 2020 to December 2021 were selected as the study subjects. Clinical data of the pedigrees were collected. Whole exome sequencing was carried out for the probands, and Sanger sequencing was used to verify the candidate variants...
March 10, 2024: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/38443020/deciphering-the-complexity-the-interaction-between-immunoglobulin-levels-and-febrile-seizures-in-children
#32
JOURNAL ARTICLE
Prateek K Panda, Indar K Sharawat
No abstract text is available yet for this article.
January 1, 2024: Neurology India
https://read.qxmd.com/read/38441162/status-epilepticus-what-s-new-for-the-intensivist
#33
JOURNAL ARTICLE
Sarah Benghanem, Estelle Pruvost Robieux, Aidan Neligan, Matthew C Walker
PURPOSE OF REVIEW: Status epilepticus (SE) is a common neurologic emergency affecting about 36.1/100 000 person-years that frequently requires intensive care unit (ICU) admission. There have been advances in our understanding of epidemiology, pathophysiology, and EEG monitoring of SE, and there have been large-scale treatment trials, discussed in this review. RECENT FINDINGS: Recent changes in the definitions of SE have helped guide management protocols and we have much better predictors of outcome...
February 14, 2024: Current Opinion in Critical Care
https://read.qxmd.com/read/38430119/second-line-immunotherapy-in-new-onset-refractory-status-epilepticus
#34
REVIEW
Aurélie Hanin, Eyal Muscal, Lawrence J Hirsch
Several pieces of evidence suggest immune dysregulation could trigger the onset and modulate sequelae of new onset refractory status epilepticus (NORSE), including its subtype with prior fever known as febrile infection-related epilepsy syndrome (FIRES). Consensus-driven recommendations have been established to guide the initiation of first- and second-line immunotherapies in these patients. Here, we review the literature to date on second-line immunotherapy for NORSE/FIRES, presenting results from 28 case reports and series describing the use of anakinra, tocilizumab, or intrathecal dexamethasone in 75 patients with NORSE...
March 2, 2024: Epilepsia
https://read.qxmd.com/read/38428172/socioeconomic-status-in-adulthood-of-children-with-and-without-a-history-of-seizures-a-retrospective-cohort-study
#35
JOURNAL ARTICLE
Paolo P Mazzone, Christopher J Weir, Jacqueline Stephen, Sohinee Bhattacharya, Richard F M Chin
OBJECTIVE: Compare adulthood socioeconomic status for children with and without a history of seizures. METHODS: Retrospective cohort study using Aberdeen Children of the Nineteen Fifties (ACONF) data comprising children born 1950-1956 attending primary school 1962-1964, with follow-up data collected in 2001. Adulthood socioeconomic status was based on registrar general measure of occupational social class and categorised as high or low. We adjusted for potentially confounding variables including childhood socioeconomic status, behavioural issues (Rutter A/B scores), biological sex, school test scores, educational attainment, parental engagement with education, peer-status in school, and alcohol use in adulthood...
February 29, 2024: Epilepsy & Behavior: E&B
https://read.qxmd.com/read/38410936/genotype-phenotype-associations-in-1018-individuals-with-scn1a-related-epilepsies
#36
JOURNAL ARTICLE
Declan Gallagher, Eduardo Pérez-Palma, Tobias Bruenger, Ismael Ghanty, Eva Brilstra, Berten Ceulemans, Nicole Chemaly, Iris de Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S Møller, Rima Nabbout, Brigid M Regan, Amy L Schneider, Ingrid E Scheffer, An-Sofie Schoonjans, Joseph D Symonds, Sarah Weckhuysen, Sameer M Zuberi, Dennis Lal, Andreas Brunklaus
OBJECTIVE: SCN1A variants are associated with epilepsy syndromes ranging from mild genetic epilepsy with febrile seizures plus (GEFS+) to severe Dravet syndrome (DS). Many variants are de novo, making early phenotype prediction difficult, and genotype-phenotype associations remain poorly understood. METHODS: We assessed data from a retrospective cohort of 1018 individuals with SCN1A-related epilepsies. We explored relationships between variant characteristics (position, in silico prediction scores: Combined Annotation Dependent Depletion (CADD), Rare Exome Variant Ensemble Learner (REVEL), SCN1A genetic score), seizure characteristics, and epilepsy phenotype...
February 27, 2024: Epilepsia
https://read.qxmd.com/read/38394710/electro-clinical-features-and-long-term-outcomes-in-guanidinoacetate-methyltransferase-gamt-deficiency
#37
JOURNAL ARTICLE
Yılmaz Yıldız, Didem Ardıçlı, Rahşan Göçmen, Dilek Yalnızoğlu, Meral Topçu, Turgay Coşkun, Ayşegül Tokatlı, Göknur Haliloğlu
OBJECTIVE: To evaluate clinical characteristics and long-term outcomes in patients with guanidinoacetate methyltransferase (GAMT) deficiency with a special emphasis on seizures and electroencephalography (EEG) findings. METHODS: We retrospectively analyzed the clinical and molecular characteristics, seizure types, EEG findings, neuroimaging features, clinical severity scores, and treatment outcomes in six patients diagnosed with GAMT deficiency. RESULTS: Median age at presentation and diagnosis were 11...
February 15, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38369236/racial-and-ethnic-differences-in-hospital-admission-and-diagnostic-evaluation-for-febrile-seizures-in-the-emergency-department
#38
JOURNAL ARTICLE
Taryn S Raschein, Shea Lammers, Amanda Nickel, Jeffrey P Louie, Kelly R Bergmann
OBJECTIVE: To examine differences in hospital admission and diagnostic evaluation for febrile seizure by race and ethnicity. STUDY DESIGN: We conducted a cross-sectional study among children 6 months to 6 years with simple or complex febrile seizure between January 1, 2016, and December 31, 2021, utilizing data from the Pediatric Health Information System. The primary outcome was hospital admission. Secondary outcomes included the proportion of encounters with neuroimaging or lumbar puncture...
February 16, 2024: Journal of Pediatrics
https://read.qxmd.com/read/38358613/benzodiazepines-for-the-treatment-of-seizure-clusters
#39
REVIEW
Patricia E Penovich, Vikram R Rao, Lucretia Long, Enrique Carrazana, Adrian L Rabinowicz
Patients with epilepsy may experience seizure clusters, which are described by the US Food and Drug Administration (FDA) as intermittent, stereotypic episodes of frequent seizure activity that are distinct from a patient's usual seizure pattern. Untreated seizure clusters may increase the risk for status epilepticus, as well as decrease quality of life and increase burden on patients and care partners. Benzodiazepine therapies are the mainstay for acute treatment of seizure clusters and are often administered by nonmedical care partners outside a healthcare facility...
February 15, 2024: CNS Drugs
https://read.qxmd.com/read/38354003/-marshall-syndrome
#40
JOURNAL ARTICLE
Pascal Pillet, Marion Bailhache
MARSHALL SYNDROME. Marshall syndrome also known as PFAPA syndrome belongs to the group of autoinflammatory diseases. The acronym reflects the main clinical features of the disease: periodic fever, aphthous stomatitis, pharyngitis, and adenitis. It is the most common autoinflammatory disease, beginning between 1 and 5 years of age. There is little or no impact on growth, but the recurrence of febrile seizures can compromise the quality of life of patients. Clinical diagnosis meets positive and exclusion criteria...
October 2023: La Revue du Praticien
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