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 3,743)

Tuberous Sclerosis Complex: Early Diagnosis in Infants

Investigators from the Tuberous Sclerosis Complex (TSC) Autism Center of Excellence Research conducted two concurrent prospective longitudinal studies to analyze the timing and pattern of clinical presenting symptoms of TSC in infants to facilitate earlier diagnosis and treatment in this specific population.

Gut Microbiota, the Ketogenic Diet and Epilepsy

Investigators from the Children's Hospital of Fudan University assessed changes in the gut microbiome of pediatric patients with intractable non-lesional epilepsy between responders and non-responders to the ketogenic diet.

Cardiovascular Risks of Ketogenic Diet for Glut-1 Deficiency

Investigators from Children's Hospitals of Aschaffenburg-Alzenau, Germany, and Essen University, Germany reported on long-term cardiovascular risks of ketogenic diet (KD) treatment for Glut1 Deficiency syndrome (GLUT1-DS).

Phenobarbital Pharmacokinetics and Optimal Dosing

Researchers from the Baylor College of Medicine in Houston, TX, USA, conducted a retrospective population pharmacokinetic analysis of 355 patients ages less than 19 years of age in the inpatient setting who were initiated on intravenous or oral phenobarbital therapy and had one or more serum phenobarbital concentrations sampled.

Focal Epilepsy and the Clock Gene

Investigators from Children’s National Medical Center, Wenzhou Medical University, Virginia Tech, University of Colorado, University of Virginia, Georgetown University, University of Maryland, and Brown University performed transcriptome analysis on human epileptogenic tissue and extended the investigation by creating and testing mouse lines with targeted genetic deletions of the...

A Promising Small Molecule for Vanishing White Matter Disease

Investigators from Calico Life Sciences LLC and AbbVie report the effects of a novel drug targeting the genetic basis of Vanishing White Matter Disease (VWMD).

Movement Disorders in Childhood Thalamic Tumors

Investigators form St. Jude Children’s Research Hospital in Memphis, Tennessee analyzed movement disorder outcomes in patients with childhood thalamic tumors.

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).