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    1088 results match your criteria Pediatrics Febrile Seizures

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    Clinical Profile and Electroencephalogram Findings in Children with Seizure Presenting to Dhulikhel Hospital.
    Kathmandu Univ Med J (KUMJ) 2016 Oct.-Dec.;14(56):347-351
    Department of Pediatrics, Dhulikhel Hospital, Kathmandu University Hospital, Dhulikhel, Kavre, Nepal.
    Background Seizure disorder is the most common childhood neurologic condition and a major public health concern. Identification of the underlying seizure etiology helps to identify appropriate treatment options and the prognosis for the child. Objective This study was conducted to investigate the clinical profile, causes and electroencephalogram findings in children with seizure presenting to a tertiary center in Kavre district. Read More

    What happens next? Recurrence Rates for First Unprovoked Seizures in Children.
    Acad Emerg Med 2018 Jan 2. Epub 2018 Jan 2.
    Departments of Emergency Medicine and Department of Pediatrics and Communicable Diseases, Michigan Medicine, Ann Arbor, MI.
    Seizures represent approximately 1% of all ED visits in the United States. 1 Unprovoked first seizures in children commonly present to the Emergency Department (ED), and even after the neurological exam normalizes, the prospect of recurrence can be a source of great anxiety for caregivers. 2 Compared to febrile seizures, unprovoked seizures carry a higher rate of recurrence and epilepsy. Read More

    Clinical Profile of Scrub Typhus Meningoencephalitis among South Indian Children.
    J Trop Pediatr 2017 Dec 18. Epub 2017 Dec 18.
    Department of Community Medicine, Indira Gandhi Medical College and Research Institute, 255, Vazhudavoor Road, Kathirkamam, Puducherry 605009, India.
    Re-emerging scrub typhus is gaining recognition as an important cause of paediatric meningoencephalitis in tropics. We studied the clinical profile of scrub typhus meningoencephalitis (STME) in children <12 years. Of 270 serology-confirmed cases of scrub typhus, 14 (5%) had features consistent with STME and 9 (64%) of these children were between 5 and 12 years of age; 12 (85%) children presented to the hospital during the second week of illness. Read More

    Mowat-Wilson syndrome presenting with fever-associated seizures.
    Epileptic Disord 2017 Dec 20. Epub 2017 Dec 20.
    Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul.
    Mowat-Wilson syndrome (MWS) is a disorder caused by mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene. Diagnosis of MWS can be challenging to neurologists, because its manifestations are diverse and the spectrum of genetic mutations are broad. Here, we describe two patients with MWS who initially showed atypical forms of fever-triggered seizures during childhood. Read More

    Temporal analysis of hippocampal CA3 gene co-expression networks in a rat model of febrile seizures.
    Dis Model Mech 2017 Nov 30. Epub 2017 Nov 30.
    Department of Pediatrics, Faculdade de Medicina, University of São Paulo (FMUSP), Brazil
    Complex febrile seizures during infancy constitute an important risk factor for epilepsy development. However, little is known about the alterations induced by febrile seizures that may turn the brain susceptible to epileptic activity. In this context, the use of animal models of hyperthermic seizures (HS) could allow the temporal analysis of brain molecular changes that arise after febrile seizures. Read More

    Clinical and genetic characterization of AP4B1-associated SPG47.
    Am J Med Genet A 2018 Feb 28;176(2):311-318. Epub 2017 Nov 28.
    Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, and Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
    The hereditary spastic paraplegias (HSPs) are a heterogeneous group of disorders characterized by degeneration of the corticospinal and spinocerebellar tracts leading to progressive spasticity. One subtype, spastic paraplegia type 47 (SPG47 or HSP-AP4B1), is due to bi-allelic loss-of-function mutations in the AP4B1 gene. AP4B1 is a subunit of the adapter protein complex 4 (AP-4), a heterotetrameric protein complex that regulates the transport of membrane proteins. Read More

    Parent's Experiences of Their Children Suffering Febrile Seizures.
    J Pediatr Nurs 2017 Nov 11;38:68-73. Epub 2017 Nov 11.
    Division of Nursing Science, Faculty of Medicine, Building 511, Floor 14, Campus US, Linköping University, SE-58183 Linköping, Sweden. Electronic address:
    Purpose: To explore parents' experiences of their child suffering febrile seizures.

    Design And Method: Seven mothers and four fathers with experience of one or several febrile seizures in their children were interviewed. A qualitative content analysis with an inductive approach was performed. Read More

    Correction to: Analysis of plasma multiplex cytokines and increased level of IL-10 and IL-1Ra cytokines in febrile seizures.
    J Neuroinflammation 2017 Nov 17;14(1):226. Epub 2017 Nov 17.
    Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine, 120-1 Neungdong-ro (Hwayang-dong), Gwangjin-gu, Seoul, 05030, South Korea.
    After publication of the article [1], it has been brought to our attention that several of the authors' names were formatted incorrectly in the original version of the article. The corrections are listed below -"Byungok Kwak" should be "Byung Ok Kwak"Soojin Kim" should be "Soo-Jin Kim"Sunwhan Bae" should be "Sun Whan Bae"Jaesung Son" should be "Jae Sung Son"Soonyung Kim" should be "Soo-Nyung Kim"The original version of the article has now been revised. Read More

    [Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome].
    Zhonghua Er Ke Za Zhi 2017 Nov;55(11):818-823
    Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
    Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives. Read More

    A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.
    J Child Neurol 2017 Dec;32(14):1123-1124
    2 Department of Neurology, University of Virginia, Charlottesville, VA, USA.
    The differential diagnosis of fever-induced movement disorders in childhood is broad. Whole exome sequencing has yielded new insights into those cases with a suspected genetic basis. We report the case of an 8-year-old boy with a history of neonatal seizures who presented with near-continuous hyperkinetic movements of his limbs during a febrile illness. Read More

    The risk of subsequent epilepsy in children with febrile seizure after 5 years of age.
    Seizure 2017 Dec 6;53:62-65. Epub 2017 Nov 6.
    Department of Pediatric Neurology, Akdeniz University, Faculty of Medicine, Antalya, Turkey. Electronic address:
    Purpose: Despite their age-dependent definition, febrile seizures (FS) may be observed in people of almost any age. The risk of developing unprovoked seizures after an FS is well defined. However, there are limited data about FS starting or persisting after 5 years of age. Read More

    Fungal and Parasitic CNS Infections.
    Indian J Pediatr 2017 Nov 11. Epub 2017 Nov 11.
    Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.
    Central nervous system fungal infections can be broadly divided into those that infect a healthy host such as Cryptococcus, Coccidioides, Histoplasma, Blastomyces, Sporothrix spp., and those that cause opportunistic infections in an immunocompromised host such as Candida, Aspergillus, Zygomycetes, Trichosporon spp. The clinical manifestations of central nervous system fungal infections commonly seen in children in clinical practice include a chronic meningitis or meningoencephalitis syndrome, brain abscess, rhino-cerebral syndrome and rarely, a fungal ventriculitis. Read More

    Novel Inflammatory Neuropathology in Immature Brain: (1) Fetal Tuberous Sclerosis, (2) Febrile Seizures, (3) α-B-crystallin, and (4) Role of Astrocytes.
    Semin Pediatr Neurol 2017 Aug 14;24(3):152-160. Epub 2017 Sep 14.
    Department of Pediatrics, University of Calgary Cumming School of Medicine and Alberta Children's Hospital Research Institute, Calgary, Alberta, Canada; Department of Clinical Neurosciences, University of Calgary Cumming School of Medicine and Alberta Children's Hospital Research Institute, Calgary, Alberta, Canada.
    Though the term "inflammation" is traditionally defined as proliferation or infiltration of lymphatic cells of the lymphatic immune system and macrophages or as immunoreactive proteins including cytokines, interleukins and major histocompatibility complexes, recently recognized reactions to tissue injury also are inflammation, often occurring in the central nervous system in conditions where they previously were not anticipated and where they may play a role in both pathogenesis and repair. We highlight 4 such novel inflammatory conditions revealed by neuropathologic studies: (1) inflammatory markers and cells in the brain of human fetuses with tuberous sclerosis complex and perhaps other disorders of the mechanistic target of rapamycin genetic or metabolic pathway, (2) inflammatory markers in the brain related to febrile seizures of infancy and early childhood, (3) heat-shock protein upregulation in glial cells and neurons at sites of chronic epileptic foci, and (4) the emerging role of astrocytes in the presence of and participation in inflammation. Novel evidence shows that cerebral inflammation plays a role in some genetic diseases as early as midgestation and thus is not always acquired postnatally or in adult life. Read More

    GRIN2A mutations in epilepsy-aphasia spectrum disorders.
    Brain Dev 2017 Oct 19. Epub 2017 Oct 19.
    Department of Pediatrics, Peking University First Hospital, Beijing, China. Electronic address:
    Objective: Epilepsy-aphasia spectrum (EAS) are a group of epilepsy syndromes denoting an association between epilepsy, speech disorders and the EEG signature of centrotemporal spikes. Mutations in the GRIN2A gene, encoding the NMDA glutamate receptor α2 subunit were reported in focal epilepsy with speech disorder. We aimed to explore the role of GRIN2A mutations in patients with centrotemporal spikes related epileptic syndromes in a Chinese cohort. Read More

    Serum neuron specific enolase is increased in pediatric acute encephalitis syndrome.
    Korean J Pediatr 2017 Sep 21;60(9):302-306. Epub 2017 Sep 21.
    Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, Airlangga University, Soetomo Hospital , Surabaya, Indonesia.
    Purpose: This study aimed to investigate whether serum neuron-specific enolase (NSE) was expressed in acute encephalitis syndrome (AES) that causes neuronal damage in children.

    Methods: This prospective observational study was conducted in the pediatric neurology ward of Soetomo Hospital. Cases of AES with ages ranging from 1 month to 12 years were included. Read More

    Analysis of plasma multiplex cytokines and increased level of IL-10 and IL-1Ra cytokines in febrile seizures.
    J Neuroinflammation 2017 Oct 10;14(1):200. Epub 2017 Oct 10.
    Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine, 120-1 Neungdong-ro (Hwayang-dong), Gwangjin-gu, Seoul, 05030, Korea.
    Background: Febrile seizures are the most common form of childhood seizures. Fever generation involves many cytokines, including both pro- and anti-inflammatory cytokines. Some of these cytokines also induce febrile seizures. Read More

    Sudden Death After Febrile Seizure Case Report: Cerebral Suppression Precedes Severe Bradycardia.
    Pediatrics 2017 Nov 5;140(5). Epub 2017 Oct 5.
    Division of Neurology and.
    A 20-month-old girl with a complex chromosomal disorder had first presentation of febrile status epilepticus and was admitted to the hospital. Two days after her initial seizure, she died suddenly and unexpectedly during a video EEG monitoring study. An advanced analysis of the physiologic changes in the hours and minutes leading up to death was undertaken. Read More

    Relationship between iron deficiency anemia and febrile seizures in children: A systematic review and meta-analysis.
    Seizure 2017 Nov 15;52:27-34. Epub 2017 Sep 15.
    Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine, 120-1 Neungdong-ro (Hwayang-dong), Gwangjin-gu, Seoul 05030, Republic of Korea. Electronic address:
    Purpose: The association between iron deficiency anemia (IDA) and febrile seizures (FS) during childhood is inconclusive due to inconsistent results reported in different studies. We performed a systematic review and meta-analysis to determine an association between IDA and FS in children.

    Methods: We searched PubMed, EMBASE, and Cochrane Library databases for studies published up to August 2015 using the following key words: ["iron deficiency" OR "iron status"] AND ["febrile seizure" OR "febrile convulsion"] AND ["pediatric" OR "infant" OR "child"]. Read More

    High Rate of Febrile Seizures in Japanese Children With Occult Bacteremia.
    Pediatr Emerg Care 2017 Sep 25. Epub 2017 Sep 25.
    From the *Division of Infectious Diseases, Department of Medical Specialties, National Center for Child Health and Development, Tokyo, Japan; †Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO; ‡Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan; and §Department of Microbiology, Immunology, and Biochemistry, University of Tennessee Health Science Center, Memphis, TN.
    Objectives: Fever of 39°C or higher and a white blood cell (WBC) count of 15,000/μL or greater are known predictors of occult bacteremia (OB). However, because of a decreasing prevalence of OB, WBC counts have become poor predictors of OB in populations of routinely immunized children. Thus, we aim to evaluate the clinical characteristics of OB in Japanese children and identify potential risk factors for OB. Read More

    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 Dec 6;32(6):2095-2104. 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 Nov 14;38(11):1969-1975. 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 Oct;171(10):992-998
    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 Nov 13;39(10):828-835. 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

    National trend survey of hospitalized patients with febrile seizure in the United States.
    Seizure 2017 Aug 24;50:160-165. Epub 2017 Jun 24.
    Department of Pediatrics, Massachusetts General Hospital for Children and Harvard Medical School, Boston, USA.
    Purpose: Several studies have reported the prevalence and incidence of febrile seizure (FS) among children in the USA and other countries. However, recent trends in FS among hospitalized children, hospital course, and risk factors for its severity remain unknown at a national level in the USA.

    Method: Hospital discharge records of patients with FS aged <6years were obtained for the years 2003, 2006, 2009, and 2012 from the Kid's Inpatient Database. Read More

    Neuroinflammation imaging markers for epileptogenesis.
    Epilepsia 2017 07;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 04 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: We extracted prospectively acquired Australian surveillance data from two studies nested within the Paediatric Active Enhanced Disease Surveillance (PAEDS) network: the Influenza Complications Alert Network (FluCAN) study and the Australian Childhood Encephalitis (ACE) study between 2013 and 2015. We described the clinical features and severity of IAND in children, including influenza associated encephalitis/encephalopathy (IAE). Read More

    Plasma cytokines associated with febrile status epilepticus in children: A potential biomarker for acute hippocampal injury.
    Epilepsia 2017 06 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 05 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

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