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    1067 results match your criteria Pediatrics Febrile Seizures

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    Circadian Rhythm and the Seasonal Variation in Childhood Febrile Seizure.
    Iran J Child Neurol 2017 ;11(3):27-30
    Pediatrics Growth Disorders Research Center, School of Medicine, 17th Shahrivar Hospital, Guilan University of Medical Sciences, Rasht, Iran.
    Objective: We aimed to assess the circadian rhythm and the seasonal variation in childhood febrile seizure (FS).

    Materials & Methods: This descriptive cross-sectional study was conducted retrospectively on patients' records. Investigators assessed the records of patients with simple FS aged 6 to 60 months referred to Emergency Department of 17-Shahrivar Hospital, Rasht northern Iran during Jan 2010 to Jan 2013. Read More

    High mobility group box 1 enhances hyperthermia-induced seizures and secondary epilepsy associated with prolonged hyperthermia-induced seizures in developing rats.
    Metab Brain Dis 2017 Sep 6. Epub 2017 Sep 6.
    Department of Pediatrics, Ehime University Graduate School of Medicine, 454 Shitsukawa, Toon, Ehime, 791-0295, Japan.
    Levels of high mobility group box 1 (HMGB1), an important inflammatory mediator, are high in the serum of febrile seizure (FS) patients. However, its roles in FS and secondary epilepsy after prolonged FS are poorly understood. We demonstrate HMGB1's role in the pathogenesis of hyperthermia-induced seizures (HS) and secondary epilepsy after prolonged hyperthermia-induced seizures (pHS). Read More

    Association of the Single Nucleotide Polymorphisms of the Genes Encoding IL-2 and IFN-γ With Febrile Seizure.
    Acta Med Iran 2017 Jun;55(6):354-359
    Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. AND Department of Immunology, School of Medicine, Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran. AND Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Sheffield, UK.
    Inflammatory elements and genetics have major roles in febrile seizures (FS) pathogenesis. Seventy patients were enrolled and compared with 139 controls. The allele and genotype frequency of the IL-2 gene at -330 and +166 positions and the IFN-γ at +874 position were determined. Read More

    Genetic epilepsy with febrile seizures plus: Refining the spectrum.
    Neurology 2017 Sep 25;89(12):1210-1219. Epub 2017 Aug 25.
    From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia.
    Objective: Following our original description of generalized epilepsy with febrile seizures plus (GEFS+) in 1997, we analyze the phenotypic spectrum in 409 affected individuals in 60 families (31 new families) and expand the GEFS+ spectrum.

    Methods: We performed detailed electroclinical phenotyping on all available affected family members. Genetic analysis of known GEFS+ genes was carried out where possible. Read More

    Thiol/disulfide homeostasis as a novel indicator of oxidative stress in children with simple febrile seizures.
    Neurol Sci 2017 Aug 14. Epub 2017 Aug 14.
    Department of Emergency, Faculty of Medicine, Sakarya University, Sakarya, Turkey.
    Simple febrile seizures are generally benign, but during the seizure, elevated levels of glutamate and high levels of oxygen use due to the high metabolic brain activity result in oxidative stress. However, the relationship between febrile seizures and oxidative stress remains unclear. In this study, we investigated thiol/disulfide homeostasis as a new oxidative stress parameter in patients with simple febrile seizures. Read More

    Evaluation of Combination Measles-Mumps-Rubella-Varicella Vaccine Introduction in Australia.
    JAMA Pediatr 2017 Aug 14. Epub 2017 Aug 14.
    National Centre for Immunisation Research and Surveillance, Sydney, Australia.
    Importance: Incorporating combination vaccines, such as the measles-mumps-rubella-varicella (MMRV) vaccine, into immunization schedules should be evaluated from a benefit-risk perspective. Use of MMRV vaccine poses challenges due to a recognized increased risk of febrile seizures (FSs) when used as the first dose in the second year of life. Conversely, completion by age 2 years of measles, mumps, rubella, and varicella immunization may offer improved disease control. Read More

    Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.
    Neurology 2017 Sep 9;89(10):1035-1042. Epub 2017 Aug 9.
    From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.
    Objective: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder.

    Methods: A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation.

    Results: We identified 9 children 3 to 12 years of age; 7 were male. Read More

    Frequency of acute bacterial meningitis in children with first episode of febrile seizures.
    J Pak Med Assoc 2017 Jul;67(7):1054-1058
    Pediatrics, Shifa College of Medicine, Islamabad, Pakistan.
    Objective: To determine the frequency of acute bacterial meningitis in children with first episode of febrile seizures.

    Methods: This cross-sectional study was conducted at the Polyclinic, Postgraduate Medical Institute, Islamabad, Pakistan, from December 2012 to August 2013, and comprised patients with first episode of fever and seizure. SPSS 10 was used for data analysis. Read More

    The effects of weather on pediatric seizure: A single-center retrospective study (2005-2015).
    Sci Total Environ 2017 Dec 27;609:535-540. Epub 2017 Jul 27.
    Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Republic of Korea. Electronic address:
    Background: Several studies have reported an association between seizure and the weather. However, reports are conflicting. Thus, we investigated whether emergency department visits due to seizure are affected by weather. Read More

    Early childhood myoclonic epilepsy: An independent genetic generalized epilepsy with myoclonic seizures as the main seizure type.
    Clin Neurophysiol 2017 Sep 6;128(9):1656-1663. Epub 2017 Jul 6.
    Department of Pediatrics, Peking University First Hospital, Beijing, China.
    Objective: To elucidate the characteristics of the myoclonic seizures alone, or predominant myoclonus combined with generalized tonic-clonic seizures (GTCS) and/or absences, in early childhood, and discuss its classification.

    Methods: Forty-two children were retrospectively recruited between January 2006 and June 2015.

    Results: The mean age of seizure onset was 40. Read More

    Development of a Real-Time Reverse Transcription Polymerase Chain Reaction for O'nyong-nyong Virus and Evaluation with Clinical and Mosquito Specimens from Kenya.
    Am J Trop Med Hyg 2017 Jul;97(1):121-124
    Department of Pathology, Stanford University School of Medicine, Stanford, California.
    O'nyong-nyong virus (ONNV), an alphavirus closely related to chikungunya virus (CHIKV), has been the documented cause of two large outbreaks in east Africa; however, little is known about the contribution of ONNV to cases of acute febrile illness during interepidemic periods. An ONNV real-time reverse transcription polymerase chain reaction (rRT-PCR) was developed and evaluated using clinical and mosquito pool samples. The ONNV rRT-PCR linear range extended from 8. Read More

    Iron Deficiency Anaemia As Risk Factor For Simple Febrile Seizures: A Case Control Study.
    J Ayub Med Coll Abbottabad 2017 Apr-Jun;29(2):316-319
    Department of Paediatrics, AJK Medical College/Shaikh Khalifa Bin Zayed Al-Nahyan Hospital/CMH, Muzaffarabad-Azad Jammu & Kashmir, Pakistan.
    Background: Febrile fits is common problem in children. Among other risk factors, iron deficiency anaemia is considered as aggravating factor for febrile fits. Iron deficiency anaemia is preventable and treatable disease. Read More

    Clinicodemographic Profile of Children with Seizures in a Tertiary Care Hospital: A Cross-Sectional Observational Study.
    Neurol Res Int 2017 21;2017:1524548. Epub 2017 Jun 21.
    Department of Pediatrics, Universal College of Medical Sciences, Bhairahawa 32900, Nepal.
    Seizures are one of the common causes for hospital admissions in children with significant mortality and morbidity. This study was conducted to study the prevalence and clinicodemographic profile of children with seizures in a tertiary care hospital of western Nepal. This prospective cross-sectional study conducted over a period of 2 years included all admitted children (2 months-16 years) with seizures. Read More

    Myoclonic epilepsy in infancy with preceding or concurrent afebrile generalized tonic-clonic seizures in Chinese children.
    Brain Dev 2017 Jul 13. Epub 2017 Jul 13.
    Department of Pediatrics, Peking University First Hospital, Beijing, China. Electronic address:
    Objective: To investigate the general characteristics and the category of myoclonic epilepsy in infancy (MEI) with or without afebrile generalized tonic-clonic seizures (GTCS).

    Methods: Thirty-three children were retrospectively recruited from approximately 42,814 video-electroencephalogram (VEEG) recordings monitored in our department over last nearly 10years. Myoclonic seizures (MS) must be identified by VEEG in all patients. Read More

    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
    Am J Hum Genet 2017 Jul;101(1):139-148
    Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:
    We report 15 individuals with de novo pathogenic variants in WDR26. Eleven of the individuals carry loss-of-function mutations, and four harbor missense substitutions. These 15 individuals comprise ten females and five males, and all have intellectual disability with delayed speech, a history of febrile and/or non-febrile seizures, and a wide-based, spastic, and/or stiff-legged gait. Read More

    Neuroinflammation imaging markers for epileptogenesis.
    Epilepsia 2017 Jul;58 Suppl 3:11-19
    Departments of Pediatrics, Anatomy/Neurobiology, Neurology, University of California-Irvine, Irvine, California, U.S.A.
    Epilepsy can be a devastating disorder. In addition to debilitating seizures, epilepsy can cause cognitive and emotional problems with reduced quality of life. Therefore, the major aim is to prevent the disorder in the first place: identify, detect, and reverse the processes responsible for its onset, and monitor and treat its progression. Read More

    Prevalence of Lassa Virus Disease (LVD) in Nigerian children with fever or fever and convulsions in an endemic area.
    PLoS Negl Trop Dis 2017 Jul 3;11(7):e0005711. Epub 2017 Jul 3.
    Department of Paediatrics, Faculty of Clinical Sciences, College of Medicine, Ambrose Alli University, Ekpoma, Edo State, Nigeria.
    Background: Convulsions with fever in children are a common neurologic emergency in the tropics, and determining the contribution of endemic viral infections can be challenging. In particular, there is a dearth of data on the prevalence and clinical differentiation of Lassa virus disease (LVD) in febrile children in endemic areas of Nigeria, which has multiple lineages of the virus. The aim of this study was to determine the prevalence and presentation of LVD in febrile children with and without convulsions. Read More

    Large-scale structural alteration of brain in epileptic children with SCN1A mutation.
    Neuroimage Clin 2017 6;15:594-600. Epub 2017 Jun 6.
    Department of Pediatrics, Asan Medical Center Children's Hospital, Seoul, Republic of Korea.
    Objective: Mutations in SCN1A gene encoding the alpha 1 subunit of the voltage gated sodium channel are associated with several epilepsy syndromes including genetic epilepsy with febrile seizures plus (GEFS +) and severe myoclonic epilepsy of infancy (SMEI). However, in most patients with SCN1A mutation, brain imaging has reported normal or non-specific findings including cerebral or cerebellar atrophy. The aim of this study was to investigate differences in brain morphometry in epileptic children with SCN1A mutation compared to healthy control subjects. Read More

    The semiology of febrile seizures: Focal features are frequent.
    Epilepsy Behav 2017 Aug 14;73:59-63. Epub 2017 Jun 14.
    Department of Pediatrics, Aichi Medical University, Japan. Electronic address:
    Objective: To clarify the semiology of febrile seizures (FS) and to determine the frequency of FS with symptoms suggestive of focal onset.

    Methods: FS symptoms in children were reported within 24h of seizure onset by the parents using a structured questionnaire consisting principally of closed-ended questions. We focused on events at seizure commencement, including changes in behavior and facial expression, and ocular and oral symptoms. Read More

    Early-life exposure to caffeine affects the construction and activity of cortical networks in mice.
    Exp Neurol 2017 Sep 30;295:88-103. Epub 2017 May 30.
    Institute for Molecular and Behavioral Neuroscience, University of Cologne, 50937 Cologne, Germany; German Center for Neurodegenerative Diseases (DZNE), 53175 Bonn, Germany; Experimental Neuropediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address:
    The consumption of psychoactive drugs during pregnancy can have deleterious effects on newborns. It remains unclear whether early-life exposure to caffeine, the most widely consumed psychoactive substance, alters brain development. We hypothesized that maternal caffeine ingestion during pregnancy and the early postnatal period in mice affects the construction and activity of cortical networks in offspring. Read More

    Individualised prediction model of seizure recurrence and long-term outcomes after withdrawal of antiepileptic drugs in seizure-free patients: a systematic review and individual participant data meta-analysis.
    Lancet Neurol 2017 Jul 5;16(7):523-531. Epub 2017 May 5.
    Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands. Electronic address:
    Background: People with epilepsy who became seizure-free while taking antiepileptic drugs might consider discontinuing their medication, with the possibility of increased quality of life because of the elimination of adverse events. The risk with this action, however, is seizure recurrence. The objectives of our study were to identify predictors of seizure recurrence and long-term seizure outcomes and to produce nomograms for estimation of individualised outcomes. Read More

    Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
    J Neurogenet 2017 Mar - Jun;31(1-2):30-36. Epub 2017 May 2.
    a GeneDx, Inc , Gaithersburg , MD , USA.
    Pathogenic missense and truncating variants in the GABRG2 gene cause a spectrum of epilepsies, from Dravet syndrome to milder simple febrile seizures. In most cases, pathogenic missense variants in the GABRG2 gene segregate with a febrile seizure phenotype. In this case series, we report a recurrent, de novo missense variant (c0. Read More

    The Spectrum and Burden of Influenza-Associated Neurological Disease in Children: Combined Encephalitis and Influenza Sentinel Site Surveillance from Australia 2013-2015.
    Clin Infect Dis 2017 Apr 29. Epub 2017 Apr 29.
    Sydney Medical School, University of Sydney, NSW.
    Background.: There are few longitudinal studies of seasonal influenza associated neurological disease (IAND) and none from the Southern hemisphere.

    Methods. Read More

    Plasma cytokines associated with febrile status epilepticus in children: A potential biomarker for acute hippocampal injury.
    Epilepsia 2017 Jun 27;58(6):1102-1111. Epub 2017 Apr 27.
    Department of Biostatistics and International Epilepsy Consortium, Virginia Commonwealth University, Richmond, Virginia, U.S.A.
    Objective: Our aim was to explore the association between plasma cytokines and febrile status epilepticus (FSE) in children, as well as their potential as biomarkers of acute hippocampal injury.

    Methods: Analysis was performed on residual samples of children with FSE (n = 33) as part of the Consequences of Prolonged Febrile Seizures in Childhood study (FEBSTAT) and compared to children with fever (n = 17). Magnetic resonance imaging (MRI) was obtained as part of FEBSTAT within 72 h of FSE. Read More

    Coinheritance of Novel Mutations in SCN1A Causing GEFS+ and in KDM6A Causing Kabuki Syndrome in a Family.
    Ann Clin Lab Sci 2017 Mar;47(2):229-235
    Department of Pediatrics, Nowon Eulji Medical Center, Eulji University, Seoul, Republic of Korea
    Because the differentiation between phenotypic expansion and blended phenotypes is not clear, the mixed phenotypes of blended rare genetic diseases make diagnosis difficult. We describe a family with the co-existence and co-segregation of generalized epilepsy with febrile seizures plus (GEFS+) and Kabuki syndrome (KS). The proband, a 7-year-old male, presented with GEFS+, dysmorphic facial features, short stature, developmental delay, and intellectual disability. Read More

    Therapeutic burst-suppression coma in pediatric febrile refractory status epilepticus.
    Brain Dev 2017 Sep 19;39(8):693-702. Epub 2017 Apr 19.
    Division of Pediatric Neurology, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan; Chang Gung Children's Hospital Study Group for Children with Encephalitis/Encephalopathy Related Status Epilepticus and Epilepsy (CHEESE), Taoyuan, Taiwan. Electronic address:
    Background: Evidence for the beneficial effect of therapeutic burst-suppression coma in pediatric patients with febrile refractory status epilepticus is limited, and the clinical outcomes of this treatment strategy are largely unknown. Therefore, the aim of this study was to explore the outcomes of therapeutic burst-suppression coma in a series of children with febrile refractory status epilepticus.

    Methods: We retrospectively reviewed consecutive pediatric patients with febrile refractory status epilepticus admitted to our pediatric intensive care unit between January 2000 and December 2013. Read More

    Comparing Practice Patterns Between Pediatric and General Emergency Medicine Physicians: A Scoping Review.
    Pediatr Emerg Care 2017 Apr;33(4):278-286
    From the *Department of Pediatrics, Albert Einstein College of Medicine and Children's Hospital at Montefiore, Bronx, NY; †Department of Pediatrics, Johns Hopkins University, Baltimore, MD; ‡Department of Pediatrics, Cohens Children's Hospital, Hofstra, Manhasset, NY; §Department of Pediatrics, University of Massachusetts School of Medicine, Worcester, MA; ∥Department of Pediatrics, Alpert Medical School of Brown University, Providence, RI; and ¶Department of Pediatrics, Yale University School of Medicine, New Haven, CT.
    Objective: Acutely ill infants and children presenting to the emergency department are treated by either physicians with pediatric emergency medicine (PEM) training or physicians without PEM training, a good proportion of which are general emergency medicine-trained physicians (GEDPs). This scoping review identified published literature comparing the care provided to infants and children (≤21 years of age) by PEM-trained physicians to that provided by GEDPs.

    Methods: The search was conducted in 2 main steps as follows: (1) initial literature search to identify available literature with evolving feedback from the group while simultaneously deciding search concepts as well as inclusion and exclusion criteria and (2) modification of search concepts and conduction of search using finalized concepts as well as review and selection of articles for final analysis using set inclusion criteria. Read More

    Increased interleukin-1β and basic fibroblast growth factor levels in the cerebrospinal fluid during human herpesvirus-6B (HHV-6B) encephalitis.
    Biochem Biophys Res Commun 2017 May 22;486(3):706-711. Epub 2017 Mar 22.
    Department of Virology, The Jikei University School of Medicine, 3-25-8 Nishi-Shimbashi, Minato-ku, Tokyo 105-8461, Japan.
    Human herpesvirus 6B (HHV-6B) causes exanthema subitum in infants and is known to be mildly pathogenic. However, HHV-6B infection can induce febrile seizures in a high percentage of patients, and in rare cases, result in encephalitis. We detected higher levels of interleukin (IL)-1β and basic fibroblast growth factor (bFGF) in the cerebrospinal fluid (CFS) of patients with HHV-6B encephalitis when compared to those in patients with non-HHV-6B-induced febrile seizures. Read More

    Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia.
    Brain Dev 2017 Aug 21;39(7):625-628. Epub 2017 Mar 21.
    Department of Pediatrics, Kyungpook National University Children's Hospital, Daegu, South Korea. Electronic address:
    Background: Acute necrotizing encephalopathy (ANE) is a rare but rapidly progressing encephalopathy following a febrile illness, commonly a viral infection. It is characterized by the features of acute encephalopathy such as seizure, alteration of consciousness, and symmetric involvement of the bilateral thalamus on neuroimaging tests. Although most ANE cases have occurred sporadically, familial or recurrent ANE has been reported in Caucasian patients, with genetic susceptibility to ANE noted in some patients due to a RANBP2 mutation. Read More

    Interleukin-1β and interleukin-1receptor antagonist polymorphisms in Egyptian children with febrile seizures: A case-control study.
    Medicine (Baltimore) 2017 Mar;96(11):e6370
    aDepartment of Pediatrics bDepartment of Pediatrics, Faculty of Medicine, Cairo University cDepartment of Pediatrics, Faculty of Medicine, Aswan University dDepartment of Clinical pathology eDepartment of Microbiology and Immunology fDepartment of Internal Medicine, Faculty of Medicine, Zagazig University, Egypt.
    Febrile seizure is the most common seizure disorder of childhood. Of the pro-inflammatory cytokines, interleukin-1 is defined as the first endogenous pyrogen.We designed this study to investigate single-nucleotide polymorphisms (SNPs) situated at positions -31 (C/T), and -511 (C/T) of interleukin-1beta (IL-1β) gene promoter and interleukin-1receptor antagonist (IL-1RA) gene variable number of tandem repeats in intron 2 (VNTR); to determine whether these polymorphisms could be a marker of susceptibility to febrile seizures in Egyptian children and we also measured the serum level of IL-1β to assess its relation to such polymorphisms. Read More

    Enduring Memory Impairments Provoked by Developmental Febrile Seizures Are Mediated by Functional and Structural Effects of Neuronal Restrictive Silencing Factor.
    J Neurosci 2017 Apr 8;37(14):3799-3812. Epub 2017 Mar 8.
    Departments of Anatomy/Neurobiology,
    In a subset of children experiencing prolonged febrile seizures (FSs), the most common type of childhood seizures, cognitive outcomes are compromised. However, the underlying mechanisms are unknown. Here we identified significant, enduring spatial memory problems in male rats following experimental prolonged FS (febrile status epilepticus; eFSE). Read More

    Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.
    BMC Neurol 2017 Feb 28;17(1):47. Epub 2017 Feb 28.
    Department of Neurology, Kansai Medical University, 2-5-1, Shinmachi, Hirakata, Osaka, 5731010, Japan.
    Background: Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of metabolism inherited in autosomal recessive pattern and is associated with a wide spectrum of neurological abnormalities.

    Case Presentation: We herein describe a 15-year-old boy with MTHFR deficiency who presented with a slowly progressive decline of school performance and a spastic gait. Rapidly deteriorating psychosis and repetitive seizures triggered by a febrile infection prompted neurological investigation. Read More

    Parental stress, pediatric quality of life, and behavior at baseline and one-year follow-up: Results from the FEBSTAT study.
    Epilepsy Behav 2017 Apr 23;69:95-99. Epub 2017 Feb 23.
    Department of Biostatistics, Virginia Commonwealth University, Richmond, VA 23298, USA.
    Febrile status epilepticus is a serious and frightening event in the life of the child and parent. It is regarded as a medical emergency with potential long lasting consequences. The purpose of this study was to look at the immediate and long term effects of such an event on parental stress and parents' perception of their child's physical and psychosocial wellbeing. Read More

    Myoclonic Absence Seizures in Dravet Syndrome.
    Pediatr Neurol 2017 May 24;70:67-69. Epub 2017 Jan 24.
    Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC, Australia; Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia; The Florey Institute of Neuroscience and Mental Health, Heidelberg, VIC, Australia; Department of Neurology, Royal Children's Hospital, Parkville, VIC, Australia. Electronic address:
    Background: Dravet syndrome is a developmental and epileptic encephalopathy that occurs as a result of SCN1A mutations in more than 80% of affected individuals. The core clinical features of Dravet syndrome include febrile and afebrile seizures beginning before 12 months; multiple seizure types, usually medically refractory, including hemiclonic, generalized tonic-clonic, focal impaired awareness, myoclonic, and absence seizures; status epilepticus; and normal early development with plateau or regression by age two years. Myoclonic absence seizures have not previously been described. Read More

    Seizures in Children With Cerebral Palsy and White Matter Injury.
    Pediatrics 2017 Mar 16;139(3). Epub 2017 Feb 16.
    The Royal Children's Hospital, Melbourne, Victoria, Australia;
    Objective: The goal of this study was to describe the prevalence, syndromes, and evolution of seizure disorders in children with cerebral palsy (CP) due to white matter injury (WMI).

    Methods: For this population-based cohort study, brain MRI scans and medical records were reviewed in children in the Victorian Cerebral Palsy Register born between 1999 and 2006 recorded as having WMI. Children were excluded if they had features of an undiagnosed syndrome, associated cortical malformation or injury, or no medical contact in the preceding year. Read More

    Unexpected Death of a Child with Complex Febrile Seizures-Pathophysiology Similar to Sudden Unexpected Death in Epilepsy?
    Front Neurol 2017 1;8:21. Epub 2017 Feb 1.
    Pappajohn Biomedical Institute, University of Iowa Carver College of Medicine, Iowa City, IA, USA; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
    Febrile seizures are usually considered relatively benign. Although some cases of sudden unexplained death in childhood have a history of febrile seizures, no documented case of febrile seizure-induced death has been reported. Here, we describe a child with complex febrile seizures who died suddenly and unexpectedly after a suspected seizure while in bed at night during the beginning phases of sleep. Read More

    Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.
    Epilepsy Res 2017 Mar 7;131:1-8. Epub 2017 Feb 7.
    Departments of Medicine and Neurology, The Royal Melbourne Hospital, The University of Melbourne, Melbourne, VIC, Australia.
    Objective: Driven by advances in genomic technology and reduction in costs, next-generation sequencing (NGS) is venturing into routine clinical care. The 'real-world' clinical utility of NGS remains to be determined in focal epilepsies, which account for 60% of all epilepsies and for which the importance of genetic factors is just beginning to emerge. We investigated the diagnostic yield and management implications of whole exome sequencing (WES)-based screening of selected genes in the routine care of common focal epilepsies suspected to have a genetic basis. Read More

    Vaccine adverse events in a safety net healthcare system and a managed care organization.
    Vaccine 2017 Mar 6;35(9):1335-1340. Epub 2017 Feb 6.
    Institute for Health Research, Kaiser Permanente Colorado, United States; Ambulatory Care Services, Denver Health, United States; Pediatrics and Epidemiology, University of Colorado, United States.
    Background: The Institute of Medicine, in a 2013 report, recommended that the Vaccine Safety Datalink (VSD) expand collaborations to include more diversity in the study population. Kaiser Permanente Colorado (KPCO), an established VSD site, partnered with Denver Health (DH), an integrated safety net healthcare system, to demonstrate the feasibility of integrating DH data within the VSD. Prior to incorporating the data, we examined the identification of specific vaccine associated adverse events (VAEs) in these two distinct healthcare systems. Read More

    Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
    Epilepsia 2017 Apr 6;58(4):565-575. Epub 2017 Feb 6.
    The Paediatric Neurosciences Research Group, Royal Hospital for Children, Queen Elizabeth University Hospitals, Glasgow, United Kingdom.
    Objective: The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy consistently associated with this phenotype is PCDH19, an X-linked disorder restricted to females, and males with mosaicism. The SMC1A gene, which encodes a structural component of the cohesin complex is also located on the X chromosome. Read More

    Development and validation of AIIMS modified INCLEN diagnostic instrument for epilepsy in children aged 1 month-18 years.
    Epilepsy Res 2017 Feb 25;130:64-68. Epub 2017 Jan 25.
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
    Objectives: There is shortage of specialists for the diagnosis of children with epilepsy, especially in resource limited settings. Existing INCLEN (International Clinical Epidemiology Network) instrument was validated for children aged 2-9 years. The current study validated modifications of the same including wider symptomatology and age group. Read More

    Profile and clinical characterization of seizures in hospitalized children.
    Pan Afr Med J 2016 16;24:313. Epub 2016 Aug 16.
    Dongchi Zhao, Department of Pediatrics, Zhongnan Hospital of Wuhan University, Wuhan, Hubei, China.
    Introduction: Seizure is the commonest pediatric neurological disorder, which is frightening to caretakers. The current study aims to determine profile, clinical spectrum and analyze the commonest etiology of seizures in children admitted to a tertiary hospital in Central China.

    Methods: This was a hospital based retrospective study carried out in Zhongnan Hospital of Wuhan University, China. Read More

    Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.
    Epilepsia 2017 Mar 18;58(3):e40-e43. Epub 2017 Jan 18.
    Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.
    Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairments. CNKSR2 (connector enhancer of KSR2) is a synaptic protein involved in Ras signaling-mediated neuronal proliferation, migration and differentiation. Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. Read More

    Clinical Epidemiology and Treatment of Febrile and Afebrile Convulsions With Mild Gastroenteritis: A Multicenter Study.
    Pediatr Neurol 2017 Feb 3;67:78-84. Epub 2016 Aug 3.
    Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya Clinical Research Center, Nagoya, Aichi, Japan.
    Background: We investigated features and responses to treatment in patients with febrile and afebrile convulsions with mild gastroenteritis and characterized convulsions with rotavirus and norovirus gastroenteritis.

    Methods: We conducted a prospective, observational study to evaluate patients with febrile and afebrile convulsions with mild gastroenteritis who were hospitalized between November 2011 and March 2014 at 13 facilities in the National Hospital Organization. We classified the patients into two groups: presence or absence of fever. Read More

    De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.
    Epilepsia 2017 Feb 13;58(2):e26-e30. Epub 2017 Jan 13.
    Department of Medicine, Epilepsy Research Centre, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.
    Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by heterogeneous phenotypes ranging from mild disorders such as febrile seizures to epileptic encephalopathies (EEs) such as Dravet syndrome (DS). Although DS often occurs with de novo SCN1A pathogenic variants, milder GEFS+ spectrum phenotypes are associated with inherited pathogenic variants. We identified seven cases with non-EE GEFS+ phenotypes and de novo SCN1A pathogenic variants, including a monozygotic twin pair. Read More

    Congenital muscular dystrophy and epilepsy: a prospective case series of pediatric patients.
    J Biol Regul Homeost Agents 2016 Oct-Dec;30(4):1217-1221
    General Paediatrics O.U., Policlinico-Vittorio Emanuele University Hospital, University of Catania, Italy.
    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. Read More

    Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.
    Ann Clin Transl Neurol 2017 Jan 20;4(1):26-35. Epub 2016 Dec 20.
    Qatar Biomedical Research InstituteMedical Genetics CenterHamad Bin Khalifa UniversityDohaQatar; PediatricsUniversity of IowaIowa CityIowa; PediatricsUniversity of JordanAmmanJordan.
    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.4514C>T; p. Read More

    Vagus nerve stimulation for genetic epilepsy with febrile seizures plus (GEFS(+)) accompanying seizures with impaired consciousness.
    Epilepsy Behav Case Rep 2017 9;7:16-19. Epub 2016 Nov 9.
    Department of Neurosurgery, Graduate School of Medical and Dental Science, Kagoshima University, Kagoshima, Japan.
    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. Read More

    Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
    Neurology 2017 Jan 4;88(5):483-492. Epub 2017 Jan 4.
    From the Danish Epilepsy Centre (R.S.M., K.M.J., M.N.), Dianalund; Institute for Regional Health Services (R.S.M., K.M.J., M.N.), University of Southern Denmark, Odense; Department of Neurology and Epileptology (T.V.W., S.V., H.L., S.M.), Hertie Institute for Clinical Brain Research, and Department of Neurosurgery (T.V.W.), University of Tübingen; Department of Neuropediatrics (I.H., M.P., S.v.S., H.M.), University Medical Center Schleswig-Holstein, Kiel, Germany; Division of Neurology (I.H., S.H., H.D.), The Children's Hospital of Philadelphia, PA; Neuroscience Department (C.M., R.G.), Children's Hospital Anna Meyer-University of Florence, Italy; Department of Genetics (E.H.B., M.S., K.L.v.G.), University Medical Center Utrecht, the Netherlands; Department of Neurology and Neurorehabilitation (U.V., I.T., T.T.), Children's Clinic of Tartu University Hospital, Estonia; Department of Pediatric Neurology and Epilepsy Center (I.B.), LMU Munich, Germany; Department of Pediatrics (I.T., T.T.), University of Tartu; Tallinn Children's Hospital (I.T.), Tallinn, Estonia; Clinic for Neuropediatrics and Neurorehabilitation (G.K., C.B., H.H.), Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Germany; Paracelsus Medical Private University (G.K.), Salzburg, Austria; Neuropeadiatric Department (L.L.F.), Hospices Civils de Lyon; Department of Genetics (G.L., N.C.), Lyon University Hospitals; Claude Bernard Lyon I University (G.L., N.C.); Lyon Neuroscience Research Centre (G.L., N.C.), CNRS UMR5292, INSERM U1028; Epilepsy, Sleep and Pediatric Neurophysiology Department (J.d.B.), Lyon University Hospitals, France; Clinic for Pediatric Neurology (S.B.), Pediatric Department, University Hospital, Herlev, Denmark; Kleinwachau (N.H.), Sächsisches Epilepsiezentrum Radeberg, Dresden; Department of Neuropediatrics/Epilepsy Center (J.J.), University Medical Center Freiburg; Department of General Paediatrics (S.S.), Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Department of Women and Child Health (S.S.), Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Germany; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Amplexa Genetics (L.H.G.L., H.A.D.), Odense, Denmark; Northern German Epilepsy Center for Children and Adolescents (S.v.S.), Schwentinental-Raisdorf, Germany; Wilhelm Johannsen Centre for Functional Genome Research (Y.M., N.T.), Department of Cellular and Molecular Medicine, University of Copenhagen; Danish Epilepsy Center (G.R.), Filadelfia/University of Copenhagen, Denmark; Department of Diagnostics (J.R.L.), Institute of Human Genetics, University of Leipzig; and Svt. Luka's Institute of Child Neurology and Epilepsy (K.M.), Moscow, Russia. Dr Maljevic is currently at the Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.
    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.

    Results: We identified 22 patients with heterozygous mutations in GABRB3, including 3 probands from multiplex families. Read More

    A young child of anti-NMDA receptor encephalitis presenting with epilepsia partialis continua: the first pediatric case in Korea.
    Korean J Pediatr 2016 Nov 30;59(Suppl 1):S133-S138. Epub 2016 Nov 30.
    Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea.
    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. Read More

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