Evidence map›Paper›PMID 30603611›Full record

ArticleEpilepsy & behavior case reports2019

Epilepsy phenotype in patients with Xp22.31 microduplication.

Mario Brinciotti, Francesca Fioriello, Antonio Mittica, Laura Bernardini, Marina Goldoni, Maria Matricardi

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Epilepsy & behavior case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 30% 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

3 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
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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

6 authors at 2 institutions in 1 country.

Mario BrinciottiDepartment of Human Neurosciences, Sapienza University of Rome, Italy.
Francesca FiorielloDepartment of Human Neurosciences, Sapienza University of Rome, Italy.
Antonio MitticaDepartment of Human Neurosciences, Sapienza University of Rome, Italy.
Laura BernardiniCytogenetics Unit, Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Foggia, Italy.
Marina GoldoniCytogenetics Unit, Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Foggia, Italy.
Maria MatricardiDepartment of Human Neurosciences, Sapienza University of Rome, Italy.
Sapienza University of Rome · ITCasa Sollievo della Sofferenza · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The clinical significance of Xp22.31 microduplication is still unclear. We describe a family in which a mother and two children have Xp22.31 microduplication associated with different forms of epilepsy and epileptiform EEG abnormalities. The proband had benign epilepsy with centrotemporal spikes with dysgraphia and dyscalculia (IQ 72), the sister had juvenile myoclonic epilepsy, and both had bilateral talipes anomalies. The mother, who was the carrier of the microduplication, was asymptomatic. The asymptomatic father did not possess the microduplication. These data contribute to delineate the phenotype associated with Xp22.31 microduplication and suggest a potential pathogenic role for an epilepsy phenotype.

Indexed as

BECTS, Benign epilepsy with centrotemporal spikesEEG abnormalitiesEpilepsyILS, intermittent light stimulationPhenotypePS, pattern stimulationSNP-array, single nucleotide polymorphism microarrayXp22.31 microduplication

Identifiers

PMID30603611
PMCPMC6310737
OpenAlexW2898746886

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.