↓ Skip to main content

De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report

Overview of attention for article published in Journal of Headache & Pain, June 2017
Altmetric Badge

About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (57th percentile)

Mentioned by

twitter
3 tweeters

Citations

dimensions_citation
5 Dimensions

Readers on

mendeley
16 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report
Published in
Journal of Headache & Pain, June 2017
DOI 10.1186/s10194-017-0770-x
Pubmed ID
Authors

Stella Gagliardi, Gaetano Salvatore Grieco, Francesca Gualandi, Luisa Maria Caniatti, Elisabetta Groppo, Marialuisa Valente, Giuseppe Nappi, Marcella Neri, Cristina Cereda

Abstract

Sporadic Hemiplegic Migraine is a rare form of migraine headache. Mutations in three different genes, two ion-channel genes and one encoding an ATP exchanger, CACNA1A, ATP1A2 and SCN1A are all responsible for the FHM phenotype, thus indicating a genetic heterogeneity for this disorder. Here, we described a de novo exonic duplication of ATP1A2 in an Italian patient with Hemiplegic Migraine. We describe the case of a young woman (33 year old) who suffered from the age of 8 years of episodic weakness of the limbs, associated to other subjective and objective features. From aged 25, she developed neurological symptoms, like dizziness, blurred vision and an MRI scan revealed aspecific peritrigonal white matter hyperintensities. Aged 32 she suffered of right hemisomatic sudden-onset paresthesias, hypoesthesia and hyposthenia and the patient was genetically investigated for sporadic hemiplegic migraine. Here we report, for the first time, an exonic duplication in the ATP1A2 associated with hemiplegic migraine. The variation identified involves exon 21 of the ATP1A2 and is expected to alter the function of the alpha(2) subunit of the Na(+)/K(+) pump; the de novo nature of the duplication further supports its pathogenic role. To date, no other CNVs have been described in the ATP1A2 but only point mutations are reported. The novel mutation may result impaired M9 transmembrane domain, in a loss-of-function of the alpha(2) Na(+)/K(+)-ATPase with glutamate accumulation, alteration of synaptic function and neurotransmission.

Twitter Demographics

The data shown below were collected from the profiles of 3 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 16 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 5 31%
Other 2 13%
Student > Ph. D. Student 2 13%
Researcher 2 13%
Student > Bachelor 1 6%
Other 2 13%
Unknown 2 13%
Readers by discipline Count As %
Neuroscience 4 25%
Medicine and Dentistry 3 19%
Pharmacology, Toxicology and Pharmaceutical Science 2 13%
Psychology 1 6%
Agricultural and Biological Sciences 1 6%
Other 2 13%
Unknown 3 19%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 18 January 2018.
All research outputs
#6,668,319
of 12,384,832 outputs
Outputs from Journal of Headache & Pain
#383
of 736 outputs
Outputs of similar age
#113,405
of 269,505 outputs
Outputs of similar age from Journal of Headache & Pain
#1
of 1 outputs
Altmetric has tracked 12,384,832 research outputs across all sources so far. This one is in the 45th percentile – i.e., 45% of other outputs scored the same or lower than it.
So far Altmetric has tracked 736 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.8. This one is in the 47th percentile – i.e., 47% of its peers scored the same or lower than it.
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 269,505 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 57% of its contemporaries.
We're also able to compare this research output to 1 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