Evidence map›Paper›PMID 31586957›Full record

ArticleBMJ case reports2019

Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine.

Marianna Gabriella Rispoli, Vincenzo Di Stefano, Elide Mantuano, Maria Vittoria De Angelis

Open access · bronzeAbstract readCase Reports
In one paragraph

Article in BMJ case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
1.5field-weighted citation impact, top 18% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Cognitive dysfunction in a patient with migraine and APT1A2 mutation: a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021
    Article
  5. Article
  6. Article
  7. Diagnostic and therapeutic aspects of hemiplegic migraine.Journal of neurology, neurosurgery, and psychiatry · 2020
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 3 institutions in 1 country.

Marianna Gabriella RispoliDepartment of Neuroscience, Imaging and Clinical Sciences, "G. d' annunzio" University, Chieti, Italy.
Vincenzo Di StefanoDepartment of Neuroscience, Imaging and Clinical Sciences, "G. d' annunzio" University, Chieti, Italy vincenzo19689@gmail.com.
Elide MantuanoInstitute of Translational Pharmacology, National Research Council of Italy, Rome, Italy.
Maria Vittoria De AngelisDepartment of Neurology, SS Annunziata Hospital, Chieti, Italy.
University of Chieti-Pescara · ITNational Research Council · ITOspedale SS. Annunziata · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hemiplegic migraine (HM) is a rare subtype of migraine with aura in which attacks include transient motor weakness or hemiparesis that can last several days. HM is linked to mutations in three different genes, CACNA1A, ATP1A2 and SCN1A, which encode for ion transporters. The clinical spectrum includes atypical symptoms such as impaired consciousness, epileptic seizures, permanent cerebellar ataxia or mental retardation. We describe a novel mutation found in the ATP1A2 gene in a patient with late-onset HM. His attacks were characterised by motor weakness associated with altered mental status, diplopia and ataxia. He also showed up MRI abnormalities and incomplete response to prophylactic therapy with verapamil. Late-onset HM should be considered among the possible causes of focal neurological deficits even in older patients with cerebrovascular risk factors when a stroke appears to be more likely.

Indexed as

AgedDiagnosis, DifferentialHumansMagnetic Resonance ImagingMaleMigraine with AuraMutation, MissenseNeurologic ExaminationPedigreeSodium-Potassium-Exchanging ATPaseATP1A2 protein, humanSodium-Potassium-Exchanging ATPasegenetic screening / counsellingheadache (including migraines)neuro geneticsneuroimagingneurology

Identifiers

PMID31586957
PMCPMC6781968
OpenAlexW2978483496

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.