Journal Watch
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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.
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.
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.
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.
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.
N Engl J Med 2017; 376:2011-2020
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...
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...
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.
Brain. 2017 Jan 10. pii: aww342