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Pediatric Neurology Briefs

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https://www.readbyqxmd.com/read/30210229/pharmacokinetics-and-optimal-dosing-of-phenobarbital
#1
COMMENT
Safiullah Shareef, Murtaza N Ali
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.
September 5, 2018: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/30210228/focal-epilepsy-and-the-clock-gene
#2
COMMENT
Roberto Refinetti
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 Clock gene.
September 5, 2018: Pediatric neurology briefs
https://www.readbyqxmd.com/read/30210142/cardiovascular-risks-of-ketogenic-diet-for-glut-1-deficiency
#3
Alberto Spalice, Cristiana A Guido
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).
September 5, 2018: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/30174381/a-promising-small-molecule-for-vanishing-white-matter-disease
#4
COMMENT
Divakar S Mithal, Jennifer P Rubin
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).
August 28, 2018: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/30174380/movement-disorders-in-childhood-thalamic-tumors
#5
COMMENT
Rebecca Garcia-Sosa, Joanna Blackburn
Investigators from St. Jude Children's Research Hospital in Memphis, Tennessee analyzed movement disorder outcomes in patients with childhood thalamic tumors.
August 28, 2018: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/30008541/inadequate-regulation-contributes-to-mislabeled-online-cannabidiol-products
#6
COMMENT
Daniel A Freedman, Anup D Patel
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.
June 18, 2018: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/30008540/pediatric-neurology-briefs-year-in-review
#7
EDITORIAL
John J Millichap
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."
June 18, 2018: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/29184381/anticonvulsant-medications-in-mitochondrial-disease
#8
COMMENT
Divakar S Mithal, Jonathan E Kurz
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).
November 2017: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/29184380/ketogenic-diet-in-super-refractory-status-epilepticus
#9
COMMENT
Garnett Smith, Craig A Press
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).
November 2017: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/29184379/neurotransmitters-and-sodium-channelopathies-possible-link
#10
COMMENT
Michael F Hammer, Alejandra D C Encinas
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.
November 2017: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/28507424/migraine-celiac-disease-and-intestinal-microbiota
#11
COMMENT
Hakim Rahmoune, Nada Boutrid
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.
February 2017: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/28507423/lacosamide-in-pediatric-status-epilepticus
#12
COMMENT
Juan A Piantino
Investigators from Baylor College of Medicine studied the efficacy of lacosamide in pediatric status epilepticus (SE).
February 2017: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/28507422/understanding-the-spectrum-of-slc2a1-associated-disorders
#13
COMMENT
Marytery Fajardo, Melissa L Cirillo
Investigators from the Danish Epilepsy Center the frequency of SLC2A1 mutations in a cohort of patients with different types of epilepsies.
February 2017: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/28070152/adult-stroke-screening-tool-in-childhood-ischemic-stroke
#14
COMMENT
Kathleen M Gorman, Mark S Wainwright
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.
January 2017: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/28070151/imaging-of-glutamate-concentration-in-sturge-weber-syndrome
#15
COMMENT
Tracy S Gertler, Cynthia V Stack
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.
January 2017: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/28070150/pediatric-neurology-briefs-year-in-review
#16
COMMENT
John J Millichap
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.
January 2017: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/27956815/neurocognitive-functions-and-behavior-in-joubert-syndrome
#17
COMMENT
Andrea Poretti, Gwendolyn J Gerner
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.
December 2016: Pediatric neurology briefs
https://www.readbyqxmd.com/read/27956814/ocular-manifestation-of-cacna1a-pathogenic-variants
#18
COMMENT
Karit Reinson, Katrin Õunap
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.
December 2016: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/27956813/epileptic-encephalopathy-due-to-brat1-pathogenic-variants
#19
COMMENT
Siddharth Srivastava, Sakkubai Naidu
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.
December 2016: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/27909387/predicting-and-preventing-epilepsy-in-sturge-weber-syndrome
#20
COMMENT
Csaba Juhász
Investigators from the University of Montreal studied potential predictors of epilepsy in young patients with Sturge-Weber syndrome (SWS).
November 2016: Pediatric Neurology Briefs
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