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SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital

Overview of attention for article published in Journal of Pediatric Epilepsy, November 2015
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Title
SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital
Published in
Journal of Pediatric Epilepsy, November 2015
DOI 10.1055/s-0035-1567853
Pubmed ID
Authors

Fiona M. Baumer, Jurriaan M. Peters, Christelle M. El Achkar, Phillip L. Pearl, Baumer, Fiona M, Peters, Jurriaan M, El Achkar, Christelle M, Pearl, Phillip L

Abstract

Voltage-gated sodium channels (Nav) are critical regulators of neuronal excitability. Genes for the α-subunits of three sodium channel subtypes-SCN1A, SCN2A, and SCN3A-are all located on chromosome 2q24. A full-term boy with an unremarkable birth history presented at 1 month of age with unusual movements that had started on day of life 2. Exam was notable for lack of visual attention, hypotonia, and hyperreflexia. Electroencephalogram (EEG) showed an invariant burst suppression with multifocal spikes, ictal episodes with bicycling movements associated with buildups of rhythmic activity, and epileptic spasms. Work-up revealed a 1.77-Mb duplication at locus 2q24.3, encompassing the entirety of SCN2A and SCN3A, but not SCN1A. Phenobarbital led to rapid resolution of the clinical seizures and EEG background normalized other than rare sharp waves. Early-onset epileptic encephalopathy (EOEE), with neonatal seizures, burst suppression, and reversibility with phenobarbital, is part of the enlarging spectrum of Nav channelopathies. The delayed diagnosis provided an unusual opportunity to view the early natural history of this disorder and its remarkable responsiveness to barbiturate therapy. The clinical and EEG response to phenobarbital implicates seizures as the cause of the encephalopathy.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 14 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 36%
Other 2 14%
Student > Master 2 14%
Student > Ph. D. Student 1 7%
Student > Postgraduate 1 7%
Other 0 0%
Unknown 3 21%
Readers by discipline Count As %
Neuroscience 5 36%
Medicine and Dentistry 4 29%
Engineering 1 7%
Unknown 4 29%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 07 September 2016.
All research outputs
#14,849,861
of 22,869,263 outputs
Outputs from Journal of Pediatric Epilepsy
#6
of 54 outputs
Outputs of similar age
#214,883
of 386,841 outputs
Outputs of similar age from Journal of Pediatric Epilepsy
#1
of 5 outputs
Altmetric has tracked 22,869,263 research outputs across all sources so far. This one is in the 33rd percentile – i.e., 33% of other outputs scored the same or lower than it.
So far Altmetric has tracked 54 research outputs from this source. They receive a mean Attention Score of 0.7. This one has done well, scoring higher than 81% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 386,841 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 41st percentile – i.e., 41% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 5 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them