Pediatric Neurology Briefs

http://www.pediatricneurologybriefs.com/
Pediatric Neurology Briefs is a peer-reviewed, Open Access (OA), continuing education service designed to expedite and facilitate the review of current scientific research and advances in child neurology and related subjects. The editors provide detailed monthly summaries of published articles, followed by commentaries based on their experience and corroborated by appropriate supplementary citations. Pediatric Neurology Briefs provides pediatric neurologists, neurologists, neurosurgeons, pediatricians, psychiatrists, psychologists, educators and other health professionals with a detailed reference guide to the diagnosis, etiology, pathology, treatment and prognosis of nervous diseases of infants, children and adolescents. Content is intended to be accessible to readers in any medical discipline.

List of Papers (Total 3,735)

Inadequate Regulation Contributes to Mislabeled Online Cannabidiol Products

Researchers from the University of Pennsylvania, Veterans Affairs San Diego, RTI international, Americans for Safe Access, Palo Alto University and Johns Hopkins University analyzed the content of 84 cannabidiol (CBD) products purchased on the internet and compared the results to their advertised concentrations.

Clinical Features of Essential Tremor in Children

Investigators from Cleveland Clinic Child Neurology Center reported the clinical features of essential tremor (ET) in the pediatric population.

Pediatric Neurology Briefs: Year in Review

In 2018, the mission of Pediatric Neurology Briefs (PNB) remains the same: “PNB is a continuing education service designed to expedite and facilitate the review of current scientific research and advances in child neurology and related subjects.”

Anticonvulsant Medications in Mitochondrial Disease

Researchers from Vienna, Austria and Sao Paulo, Brazil studied the known effects of anticonvulsant drugs on mitochondria, using a literature search to include only references to epilepsy associated with mitochondrial disease, and a specific anti-convulsant drug (i.e. levetiracetam) with a specific mitochondrial function (i.e. mitochondrial membrane potential).

Ketogenic Diet in Super-Refractory Status Epilepticus

Researchers from the Children’s National Health System in Washington, D.C. studied the feasibility, rate of complications, and effect on seizures of initiating the Ketogenic Diet (KD) in pediatric patients with Super-Refractory Status Epilepticus (SRSE).

Neurotransmitters and Sodium Channelopathies; Possible Link?

Investigators from the University of British Columbia, Great Ormond Street Hospital for Children, and the National Hospital reported their findings on neurotransmitter deficiencies in two patients with mutations in voltage-gated sodium genes (SCN2A and SCN8A) discovered by whole exome sequencing.

Migraine, Celiac Disease and Intestinal Microbiota

Investigators from four European tertiary care hospitals (in Paris, France; Milan, Udine and Perugia, Italy) performed a case-control study of children and adolescents aged 6 to 17 years diagnosed with primary headaches in the emergency department by a pediatric neurologist using the validated ICHD-3 criteria.

Lacosamide in Pediatric Status Epilepticus

Investigators from Baylor College of Medicine studied the efficacy of lacosamide in pediatric status epilepticus (SE).

Understanding the Spectrum of SLC2A1-Associated Disorders

Investigators from the Danish Epilepsy Center the frequency of SLC2A1 mutations in a cohort of patients with different types of epilepsies.

Adult Stroke Screening Tool in Childhood Ischemic Stroke

Investigators from Nationwide Children's Hospital, Columbus, OH performed a retrospective study to determine whether the application of an adult stroke scale could discriminate between children with acute arterial ischemic stroke (AIS) and other causes of acute neurologic deficits.

Imaging of Glutamate Concentration in Sturge-Weber Syndrome

Investigators from Wayne State University studied a cohort of children with Sturge-Weber syndrome (SWS) and epilepsy using both glucose-based positron emission tomography (FDG-PET) to evaluate metabolic activity and proton magnetic resonance spectroscopic imaging (MRSI) to evaluate glutamate turnover.

Pediatric Neurology Briefs: Year in Review

Pediatric Neurology Briefs (PNB) has been published monthly since 1987 as a continuing education service designed to expedite and facilitate review of current medical literature concerning pediatric neurology.

Neurocognitive Functions and Behavior in Joubert Syndrome

Investigators from multiple Italian pediatric neurology and neurogenetics departments studied cognitive functions, behavior, and adaptive functioning in large cohort of 54 patients with Joubert syndrome (JS) as part of a prospective, multi-center study.

Ocular Manifestation of CACNA1A Pathogenic Variants

Investigators from The Children’s Hospital at Westmead in New South Wales; The Queensland University of Technology in Brisbane; Sydney Children’s Hospital in New South Wales and Laboratoire de Genetique in Paris investigated children with a proven heterozygous missense pathogenic variant in the CACNA1A gene.

Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants

Investigators from Institut für Medizinische Genetik und Humangenetik have highlighted the role of compound heterozygous BRAT1 variants in two German brothers with variable presentations of intractable epilepsy, poor development, postnatal microcephaly, hypertonia, apnea, and infantile/childhood death.

Predicting and Preventing Epilepsy in Sturge-Weber Syndrome?

Investigators from the University of Montreal studied potential predictors of epilepsy in young patients with Sturge-Weber syndrome (SWS).

Crouch Gait in Dravet Syndrome

Investigators from Necker Enfants Malades Hospital, Sorbonne Paris Cite University, Raymond Poincare University, and Paris Descartes University studied motor neuron function in children with Dravet syndrome (DS).

Biomarkers of Inflammation in Pediatric Arterial Ischemic Stroke

Investigators from Switzerland studied inflammatory markers in children and neonates with acute arterial ischemic stroke (AIS).

Pediatric Intracranial Hypertension

Investigators from the Ohio State University, Oregon Health and Science University and Rosalind Franklin School of Medicine examined the presenting manifestations, demographics and treatment strategies in children enrolled in the Intracranial Hypertension Registry (IHR).

The Burden of Pediatric Encephalitis in the United States

Investigators from the University of Maryland, University of Colorado, and Arkansas Children’s Hospital studied the epidemiology, management and resource utilization of children admitted to hospitals in the United States with encephalitis.

Genetic Testing Requires NGS and Sanger Methodologies

Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.

Risk of Remote Seizures After Perinatal Ischemic Stroke

Investigators from the University of California San Francisco and Kaiser Permanente Medical Centers in Oakland report outcome of perinatal arterial ischemic stroke (PAIS) in a population-based cohort, with particular attention to the incidence of seizures.

Tuberous Sclerosis Complex: A Roadmap for Future Research

Investigators from the NINDS and the Tuberous Sclerosis Alliance sponsored a workshop in March 2015, which joined basic scientists and clinicians with expertise in various aspects of Tuberous Sclerosis Complex (TSC), in order to assess the current state of TSC research and to set future goals.

ADHD, Methylphenidate, and Childhood Epilepsy

Investigators from the Department of Functional Neurology, Epileptology and Epilepsy Institute (IDEE), and the Lyon’s University Hospital examined the clinical determinants of ADHD severity in children with epilepsy (CWE) along with the response to treatment with methylphenidate (MPH).

Phenotypes of Dravet Syndrome

Researchers from the University of Washington in Seattle studied selective heterozygous and homozygous deletions of the voltage gated sodium channel (Nav1.1) in parvalbumin (PV) or somato-statin (SST) expressing interneurons.