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Journal Watch


karenskjeiKaren L. Skjei, M.D. was inspired to pursue a career in medicine after witnessing the impact of a lack of access to medical care during her 2 years in the U.S. Peace Corps in the Dominican Republic. She attended medical school at the University of California, San Francisco (UCSF), followed by a pediatric neurology residency at the Mayo Clinic in Minnesota. She then did a 2- year fellowship in Clinical Neurophysiology/Epilepsy at the Children's Hospital of Philadelphia. She is active in health disparities research and founded and leads the Health Equity Committee through the Pediatric Epilepsy Research Consortium.

After serving in academic leadership positions in epilepsy for 10 years, she chose to combat health disparities directly by setting up the first pediatric epilepsy practice in El Paso, Texas, a city of 850,000 with only a single pediatric neurologist.

Internationally she has given invited lectures in English and Spanish on a variety of pediatric epilepsy topics at regional education conferences organized by the American Epilepsy Society (AES), American Academy of Neurology and the International Child Neurology Society in locations as diverse as Ecuador, Paraguay, India and the Sudan. She has been editor of the ICNA Journal Watch since its inception in 2019.

She is a fellow of the AES and has published more than 13 peer-reviewed articles and two book chapters. She has won several major awards throughout her career including the Chancellor’s Award for Public Service at UCSF, the Mayo Brother’s Distinguished Fellows award at the Mayo Clinic and the Tower Award for Outstanding Faculty at the University of Texas at Austin. She founded the Pediatric Epilepsy Fellowship at the University of Texas at Austin and has garnered several teaching awards throughout her career. Perhaps most importantly, she has inspired many trainees to enter the fields of pediatric neurology and pediatric epilepsy and continues to mentor trainee from the undergraduate level through fellowship.

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November 23, 2017 3795 1
N Engl J Med. 2017 Nov 2;377(18):1723-1732
Findings from a randomized, double-blind, phase 3 efficacy and safety trial published in the New England Journal of Medicine suggest that infants with spinal muscular atrophy who receive nusinersen experience greater survival and motor function improvement compared with controls.
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Updated November 14, 2017 3436 0
JAMA Pediatr. 2017;171(9)
This paper looks at the diagnostic yield of genetic testing when used for children with newly presenting early-life epilepsy. 
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Updated October 24, 2017 3182 0
Neurology. 2017 Apr 25;88(17):1674-1680
OBJECTIVE: To determine the incidence rates of sudden unexpected death in epilepsy (SUDEP) in different epilepsy populations and address the question of whether risk factors for SUDEP have been identified. METHODS: Systematic review of evidence; modified Grading Recommendations Assessment, Development, and Evaluation process for developing conclusions; recommendations developed by consensus.
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Updated October 22, 2017 2242 0
Epilepsia Volume 58, Issue 9 September 2017
To identify potential pharmacokinetic interactions between the pharmaceutical formulation of cannabidiol (CBD; Epidiolex) and the commonly used antiepileptic drugs (AEDs) through an open-label safety study. Serum levels were monitored to identify interactions between CBD and AEDs.
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Updated July 27, 2017 3754 1
Lancet. 2017 Jul 17
Background Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies aimed at restoring dystrophin protein production are being explored. We aimed to assess the efficacy and safety of ataluren in ambulatory boys with nonsense mutation DMD.
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May 26, 2017 3020 0
N Engl J Med 2017; 376:2011-2020
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April 17, 2017 4417 0
Epilepsia, 58(4):522–530, 2017
The International League Against Epilepsy (ILAE) presents a revised operational clas-sification of seizure types. The purpose of such a revision is to recognize that some sei-zure types can have either a focal or generalized onset, to allow classification when theonset is unobserved, to include some missing seizure types, and to adopt more trans-parent names. Because current knowledge is insufficient to form a scientifically basedclassification, the 2017 Classification is operational (practical) and based on the 1981Classification, extended in 2010. Changes include the following: (1) “partial” becomes“focal”; (2) awareness is used as a classifier of focal seizures; (3) the terms dyscognitive,simple...
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April 17, 2017 5032 0
Epilepsia Volume 58, Issue 4 April 2017 Pages 531–542
This companion paper to the introduction of the International League Against Epilepsy (ILAE) 2017 classification of seizure types provides guidance on how to employ the classification. Illustration of the classification is enacted by tables, a glossary of relevant terms, mapping of old to new terms, suggested abbreviations, and examples. Basic and extended versions of the classification are available, depending on the desired degree of detail. Key signs and symptoms of seizures (semiology) are used as a basis for categories of seizures that are focal or generalized from onset or with unknown onset. Any focal seizure can further be optionally...
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February 18, 2017 4228 0
Proc Natl Acad Sci U S A. 2017 Feb 6
Zika virus (ZIKV) causes microcephaly, whereas other related pathogenic flaviviruses do not. To reach the fetal brain, a virus must be transported from the maternal to the fetal circulation, which requires crossing of the placental barrier. Studies demonstrate that mammalian cell-derived ZIKV, but not two other globally relevant flaviviruses, efficiently infects fetal endothelial cells, a key component of the placental barrier, because only ZIKV can efficiently use the cell-surface receptor AXL.
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February 18, 2017 5262 0
Brain. 2017 Jan 10. pii: aww342
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