Powered by OpenAIRE graph
Found an issue? Give us feedback
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao ZENODOarrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
ZENODO
Dataset . 2021
Data sources: Datacite
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
ZENODO
Dataset . 2021
Data sources: Datacite
ZENODO
Dataset . 2021
Data sources: ZENODO
 View all 2 versions
Claim

This Research product is the result of merged Research products in OpenAIRE.

You have already added 0 works in your ORCID record related to the merged Research product.

dataset related to article: "Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy"

Research datakeyboard_double_arrow_right Dataset 06 Sep 2021Publisher:Zenodo
Authors: Solazzi, Roberta; Castellotti, Barbara; Canafoglia, Laura; Messina, Giuliana; Magri, Stefania; Freri, Elena Maria; Ragona, Francesca; +4 Authors

doi: 10.5281/zenodo.5469042 , 10.5281/zenodo.5469043

dataset related to article: "Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy"

Abstract

Study supported by italian ministry of healt: Ricerca Corrente - LR2: Basi molecolari delle epilessie su base genetica: sviluppo di una piattaforma analitica genetica di nuova generazione per l'ottimizzazione dei processi di diagnosi e per l'identificazione di nuovi geni malattia e di terapie personalizzate

dataset contains Sanger Sequencing Analysis: .ab1 (S2939-SCN8A-10F.ab1, S2939-SCN8A-10R.ab1) NGS analysis: .vcf (S2939)

Related Organizations
Keywords

paroxysmal tonic upgaze, SCN8A-related epilepsy, developmental and epileptic encephalopathy, DEE, paroxysmal movement disorders

  • BIP!
    Impact byBIP!
    citations
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    		 0
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    		 Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    		 Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    		 Average
    OpenAIRE UsageCounts
    Usage byUsageCounts
    visibility views 4
  • 4
    views
    Powered byOpenAIRE UsageCounts
Powered by OpenAIRE graph
Found an issue? Give us feedback
visibility
citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
views
OpenAIRE UsageCountsViews provided by UsageCounts
0
Average
Average
Average
4
Related to Research communities
Knowmad Institut
Neuroscience