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Febrile Seizure

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https://www.readbyqxmd.com/read/28089358/complex-febrile-seizures-a-systematic-review
#1
Harry Whelan, Matthew Harmelink, Erica Chou, Delphin Sallowm, Nadir Khan, Rachit Patil, Kumar Sannagowdara, Jun Ho Kim, Wei Liang Chen, Suad Khalil, Ivana Bajic, Aliyah Keval, Donald Greydanus
No abstract text is available yet for this article.
January 12, 2017: Disease-a-month: DM
https://www.readbyqxmd.com/read/28078877/congenital-muscular-dystrophy-and-epilepsy-a-prospective-case-series-of-pediatric-patients
#2
G Vitaliti, P Pavone, C Romano, M Barbagallo, M Vecchio, C Ledda, R Lubrano, R Falsaperla
Congenital Muscular Dystrophies (CMDs) can be considered as a heterogeneous group of diseases characterized by marked weakness, generalized hypotonia and joint contractures. They are divided into pure and classical forms, without ocular and cerebral involvement, and complex forms, which are associated with cerebral abnormalities. Seizures have rarely been described in the pure forms while they seem to occur more frequently in complex forms. The aim of our study was to evaluate the incidence of seizure in CMD...
October 2016: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#3
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28070485/vagus-nerve-stimulation-for-genetic-epilepsy-with-febrile-seizures-plus-gefs-accompanying-seizures-with-impaired-consciousness
#4
Ryosuke Hanaya, Fajar H Niantiarno, Yumi Kashida, Hiroshi Hosoyama, Shinsuke Maruyama, Toshiaki Otsubo, Kazumi Tanaka, Atsushi Ishii, Shinichi Hirose, Kazunori Arita
Genetic epilepsy with febrile seizures plus (GEFS(+)) is characterized by childhood-onset epilepsy syndrome. It involves febrile seizures and a variety of afebrile epileptic seizure types within the same pedigree with autosomal-dominant inheritance. Approximately 10% of individuals with GEFS(+) harbor SCN1A, a gene mutation in one of the voltage-gated sodium channel subunits. Considerably less common are focal epilepsies including complex partial seizures. We report vagus nerve stimulation (VNS) in a 6-year-old girl with GEFS(+) who exhibited refractory generalized tonic-clonic seizures and complex partial seizures...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28058944/epilepsy-in-hemiplegic-migraine-genetic-mutations-and-clinical-implications
#5
P Prontera, P Sarchielli, S Caproni, C Bedetti, L M Cupini, P Calabresi, C Costa
Objective We performed a systematic review on the comorbidities of familial/sporadic hemiplegic migraine (F/SHM) with seizure/epilepsy in patients with CACNA1A, ATP1A2 or SCN1A mutations, to identify the genotypes associated and investigate for the presence of mutational hot spots. Methods We performed a search in MEDLINE and in the Human Gene Mutation and Leiden Open Variation Databases for mutations in the CACNA1A, ATP1A2 and SCN1A genes. After having examined the clinical characteristics of the patients, we selected those having HM and seizures, febrile seizures or epilepsy...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28053010/mutations-in-gabrb3-from-febrile-seizures-to-epileptic-encephalopathies
#6
Rikke S Møller, Thomas V Wuttke, Ingo Helbig, Carla Marini, Katrine M Johannesen, Eva H Brilstra, Ulvi Vaher, Ingo Borggraefe, Inga Talvik, Tiina Talvik, Gerhard Kluger, Laurence L Francois, Gaetan Lesca, Julitta de Bellescize, Susanne Blichfeldt, Nicolas Chatron, Nils Holert, Julia Jacobs, Marielle Swinkels, Cornelia Betzler, Steffen Syrbe, Marina Nikanorova, Candace T Myers, Line H G Larsen, Sabina Vejzovic, Manuela Pendziwiat, Sarah von Spiczak, Sarah Hopkins, Holly Dubbs, Yuan Mang, Konstantin Mukhin, Hans Holthausen, Koen L van Gassen, Hans A Dahl, Niels Tommerup, Heather C Mefford, Guido Rubboli, Renzo Guerrini, Johannes R Lemke, Holger Lerche, Hiltrud Muhle, Snezana Maljevic
OBJECTIVE: To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes. METHODS: We performed massive parallel sequencing of GABRB3 in 416 patients with a range of epileptic encephalopathies and childhood-onset epilepsies and recruited additional patients with epilepsy with GABRB3 mutations from other research and diagnostic programs...
January 4, 2017: Neurology
https://www.readbyqxmd.com/read/28018466/a-young-child-of-anti-nmda-receptor-encephalitis-presenting-with-epilepsia-partialis-continua-the-first-pediatric-case-in-korea
#7
Eun-Hee Kim, Yeo Jin Kim, Tae-Sung Ko, Mi-Sun Yum, Jun Hwa Lee
Anti-N-methyl D-aspartate receptor (anti-NMDAR) encephalitis, recently recognized as a form of paraneoplastic encephalitis, is characterized by a prodromal phase of unspecific illness with fever that resembles a viral disease. The prodromal phase is followed by seizures, disturbed consciousness, psychiatric features, prominent abnormal movements, and autonomic imbalance. Here, we report a case of anti-NMDAR encephalitis with initial symptoms of epilepsia partialis continua in the absence of tumor. Briefly, a 3-year-old girl was admitted to the hospital due to right-sided, complex partial seizures without preceding febrile illness...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018437/1p36-deletion-syndrome-confirmed-by-fluorescence-in-situ-hybridization-and-array-comparative-genomic-hybridization-analysis
#8
Dong Soo Kang, Eunsim Shin, Jeesuk Yu
Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27940351/unexpected-marked-seizure-improvement-in-paediatric-epilepsy-surgery-candidates
#9
Christina E Hoei-Hansen, René Mathiasen, Peter Uldall
PURPOSE: Epilepsy surgery is performed based on the assumption that medical refractory epilepsy will continue. Rarely seizure freedom occurs before surgery is performed, while the patient is being evaluated as an epilepsy surgery candidate. The aim of this study was to describe the number of children withdrawn from an epilepsy surgery programme due to unexpected seizure improvement. METHODS: We retrospectively studied 173 children under 18 years with medical refractory epilepsy referred for epilepsy surgery between 1996 and 2010...
December 1, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27930967/epidemiology-and-diagnostic-and-therapeutic-management-of-febrile-seizures-in-the-italian-pediatric-emergency-departments-a-prospective-observational-study
#10
Giovanna Vitaliti, Emanuele Castagno, Fulvio Ricceri, Antonio Urbino, Alberto Verrotti Di Pianella, Riccardo Lubrano, Elisa Caramaschi, Maurizio Prota, Rita Maria Pulvirenti, Patrizia Ajovalasit, Giuseppe Signorile, Carla Navone, Maria Rosaria La Bianca, Alberto Villani, Giovanni Corsello, Raffaele Falsaperla
AIM: Febrile seizures (FS) involve 2-5% of the paediatric population, among which Complex FS (CFS) account for one third of accesses for FS in Emergency Departments (EDs). The aim of our study was to define the epidemiology, the clinical, diagnostic and therapeutic approach to FS and CFSs in the Italian EDs. METHODS: A multicenter prospective observational study was performed between April 2014 and March 2015. Patients between 1 and 60 months of age, randomly accessing to ED for ongoing FS or reported FS at home were included...
November 16, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27919115/febrile-infection-related-epilepsy-syndrome-clinical-review-and-hypotheses-of-epileptogenesis
#11
Andreas van Baalen, Annamaria Vezzani, Martin Häusler, Gerhard Kluger
Febrile infection-related epilepsy syndrome (FIRES, AERRPS, or DESC) is one of the most severe, mostly irreversible, and presumably immune-mediated epileptic encephalopathies affecting healthy children. Refractory status epilepticus or a cluster of seizures start a few days after the onset of an acute febrile illness; however, encephalitis cannot be proved. Sequelae of FIRES are drug-resistant epilepsy and neuropsychological impairments occurring without latency. Clinical knowledge is limited because FIRES is sporadic and extremely rare...
December 5, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27914475/an-observational-study-of-febrile-seizures-the-importance-of-viral-infection-and-immunization
#12
Joshua R Francis, Peter Richmond, Christine Robins, Katie Lindsay, Avram Levy, Paul V Effler, Meredith Borland, Christopher C Blyth
BACKGROUND: Febrile seizures are common in young children. Annual peaks in incidence mirror increased respiratory virus activity during winter. Limited virological data are available using modern diagnostic techniques for children with febrile seizures. We aimed to determine the frequency of detection of specific viral pathogens in children with febrile seizures, to describe risk factors including recent vaccination and clinical features associated with specific etiologies. METHODS: An observational study was performed...
December 3, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27894273/prevalence-of-non-febrile-seizures-in-children-with-idiopathic-autism-spectrum-disorder-and-their-unaffected-siblings-a-retrospective-cohort-study
#13
Lena M McCue, Louise H Flick, Kimberly A Twyman, Hong Xian, Thomas E Conturo
BACKGROUND: Autism spectrum disorder (ASD) is a heterogeneous disorder characterized not only by deficits in communication and social interactions but also a high rate of co-occurring disorders, including metabolic abnormalities, gastrointestinal and sleep disorders, and seizures. Seizures, when present, interfere with cognitive development and are associated with a higher mortality rate in the ASD population. METHODS: To determine the relative prevalence of non-febrile seizures in children with idiopathic ASD from multiplex and simplex families compared with the unaffected siblings in a cohort of 610 children with idiopathic ASD and their 160 unaffected siblings, participating in the Autism Genetic Resource Exchange project, the secondary analysis was performed comparing the life-time prevalence of non-febrile seizures...
November 28, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27890955/aspergillus-meningoencephalitis-in-a-patient-with-human-immunodeficiency-virus-infection-normal-cerebrospinal-fluid-does-not-mean-absence-of-meningitis
#14
Soaham Dilip Desai, Sanket Seth, Aniketh Shah, Bhalendu Vaishnav
A male with human immunodeficiency virus infection presented with febrile encephalopathy followed by seizures and left hemiparesis. Initial imaging with contrast computerized tomography (CT) scan brain and cerebrospinal fluid (CSF) examination were normal. Subsequent magnetic resonance imaging brain revealed bilateral parieto-occipital infarcts with bleed. He did not improve on treatment with broad-spectrum antibiotics, anti-tubercular drugs, and antifungals. He finally succumbed to the disease. His CSF culture grew Aspergillus after 2 weeks...
July 2016: Indian Journal of Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/27889818/somatosensory-reflex-seizures-in-a-child-with-epilepsy-related-to-novel-scn1a-mutation
#15
Pinar Arican, Nihal Olgac Dundar, Dilek Cavusoglu, Taha Resid Ozdemır, Pinar Gencpinar
INTRODUCTION: Mutations in SCN1A have been reported in patients with different types of epilepsy, including generalized epilepsy with febrile seizures plus, severe myoclonic epilepsy in infancy, malignant migrating partial seizures in infancy, and other infantile epileptic encephalopathies. CASE REPORT: We report a case of a 10-month-old girl presented with reflex epileptic seizures provoked by somatosensory stimuli with a novel de novo mutation of SCN1A gene. She was observed to have seizures with eye deviation, unresponsiveness provoked by somatosensory stimuli of the face...
November 26, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27875923/age-of-onset-of-mesial-temporal-lobe-epilepsy-with-hippocampal-sclerosis-the-effect-of-apolipoprotein-e-and-febrile-seizures
#16
Bárbara Leal, João Chaves, Cláudia Carvalho, Andreia Bettencourt, Joel Freitas, João Lopes, João Ramalheira, Paulo P Costa, Denisa Mendonça, António M Silva, Berta M Silva
PURPOSE: Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is the most frequent pharmaco-resistant epilepsy. It has been associated with febrile seizures (FS) in childhood. Its aetiology remains unclear but genetic factors are involved. Apolipoprotein E (ApoE) is the main lipoprotein secreted in brain. It has a critical immunomodulatory function, influences neurotransmission and it is involved in repairing damaged neurons. ApoE ϵ4 is an isoform of ApoE with altered protein function, previously associated with refractoriness and early onset epilepsy...
December 12, 2016: International Journal of Neuroscience
https://www.readbyqxmd.com/read/27871023/association-of-a-novel-gabrg2-splicing-variation-and-a-ptgs2-cox-2-single-nucleotide-polymorphism-with-taiwanese-febrile-seizures
#17
Kun-Long Hung, Jao-Shwann Liang, Jinn-Shyan Wang, Hui-Ju Chen, Li-Ju Lin, Jyh-Feng Lu
Febrile seizure (FS) is the most common type of convulsion in infants and young children. The occurrence of FS in a subset of children with febrile illness suggested genetic factors may have an important effect on the predisposition of the disease. Using targeted next generation sequencing (NGS), a novel splicing variation (NM_198903.2:c.1249-1G>T) was identified in the γ-aminobutyric acid type A (GABA-A) receptor γ2 subunit (GABRG2) gene of a FS patient. To investigate possible association of FS with single nucleotide polymorphisms (SNPs) in prostaglandin-endoperoxide synthase-2 (prostaglandin G/H synthase-2; PTGS2/cyclooxygenase-2; COX2) gene involving in thermoregulatory pathway, eight SNPs, rs689465, rs689466, rs20417, rs13306038, rs201931599, rs689470, rs4648306 and rs4648308, along with 2 previously reported variations in IL1RN (86-bp VNTR) and IL10 (rs1900872) were genotyped and utilized for case-control association studies on 35 FS and 31 non-FS controls...
November 14, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27867041/infantile-epileptic-encephalopathy-associated-with-scn2a-mutation-responsive-to-oral-mexiletine
#18
Laura A Foster, Maria R Johnson, John T MacDonald, Peter I Karachunski, Thomas R Henry, David R Nascene, Brian P Moran, Gerald V Raymond
BACKGROUND: Genetic alterations are significant causes of epilepsy syndromes; especially early-onset epileptic encephalopathies and voltage-gated sodium channelopathies are among the best described. Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with benign familial neonatal-infantile seizures, generalized epilepsy febrile seizures plus, and an early-onset infantile epileptic encephalopathy. METHOD: We describe two infants with medically refractory seizures due to a de novo SCN2A mutation...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27844061/lithium-responsive-seizure-like-hyperexcitability-is-caused-by-a-mutation-in-the-drosophila-voltage-gated-sodium-channel-gene-paralytic
#19
Garrett A Kaas, Junko Kasuya, Patrick Lansdon, Atsushi Ueda, Atulya Iyengar, Chun-Fang Wu, Toshihiro Kitamoto
Shudderer (Shu) is an X-linked dominant mutation in Drosophila melanogaster identified more than 40 years ago. A previous study showed that Shu caused spontaneous tremors and defects in reactive climbing behavior, and that these phenotypes were significantly suppressed when mutants were fed food containing lithium, a mood stabilizer used in the treatment of bipolar disorder (Williamson, 1982). This unique observation suggested that the Shu mutation affects genes involved in lithium-responsive neurobiological processes...
September 2016: ENeuro
https://www.readbyqxmd.com/read/27843467/comparison-of-relation-between-attention-deficit-hyperactivity-disorder-in-children-with-and-without-simple-febrile-seizure-admitted-in-arak-central-iran
#20
Bahman Salehi, Parsa Yousefichaijan, Smira Safi Arian, Somaieh Ebrahimi, Mahdyieh Naziri
OBJECTIVE: Febrile seizure is one of the most prevalent childhood convulsions with the most common age of onset at 14-18 mo old. Fever decreases the brain threshold for seizure. Attention Deficit Hyperactivity Disorder (ADHD) is also a neurologic-behavioral problem defined by attention deficit and hyperactivity according to DSM-IV criteria in which the child must have these signs in two different environments. There is controversy on the possible relation between febrile seizure and ADHD; while some studies approve a strong relation, some exclude any relation and some attribute ADHD to the side effects of other reasons...
2016: Iranian Journal of Child Neurology
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