Evidence map›Paper›PMID 37510386›Full record

ArticleGenes2023

Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with

Alessia Azzarà, Ilaria Cassano, Carla Lintas, Fabio Pilato, Fioravante Capone, Vincenzo Di Lazzaro, Fiorella Gurrieri

Open access · goldAbstract read
In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.6field-weighted citation impact, top 29% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. 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

7 authors at 1 institution in 1 country.

Alessia AzzaràResearch Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy.ORCID 0000-0003-3639-6687
Ilaria CassanoResearch Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy.ORCID 0000-0001-9424-4249
Carla LintasResearch Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy.ORCID 0000-0003-1209-8554
Fabio PilatoResearch Unit of Neurology, Neurophysiology, Neurobiology and Psichiatry, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy.ORCID 0000-0002-7248-3916
Fioravante CaponeResearch Unit of Neurology, Neurophysiology, Neurobiology and Psichiatry, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy.
Vincenzo Di LazzaroResearch Unit of Neurology, Neurophysiology, Neurobiology and Psichiatry, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy.ORCID 0000-0002-9113-5925
Fiorella GurrieriResearch Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy.ORCID 0000-0002-6775-5972
Università Campus Bio-Medico · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Peripheral facial palsy rarely occurs as part of Melkersson-Rosenthal syndrome (MRS), which is characterized by the classical triad of tongue cheilitis, recurrent episodes of orofacial swelling, and palsy. MRS is a disorder with variable expressivity and clinical as well as genetic heterogeneity; however, the causative gene remains to be identified. Migraine is a common neurological disorder, presenting with or without aura, which may be associated with neurological symptoms. The classical example of monogenic migraine is familial hemiplegic migraine (FHM), which has phenotypic variability in carriers of variants in the same gene or even carriers of the same variant. We present a family in which two sisters displayed recurrent migraines, one of which presented recurrent facial palsy and had clinical diagnosis of MRS. We performed WES and Sanger sequencing for segregation analysis in the available family members. We identified a c.3521C>G missense heterozygous variant in

Indexed as

Facial ParalysisMelkersson-Rosenthal SyndromeMigraine DisordersHumansMutation, MissenseNAV1.1 Voltage-Gated Sodium ChannelPhenotypeNAV1.1 Voltage-Gated Sodium ChannelSCN1A protein, humancandidate geneexomeMelkersson–Rosenthal syndromemigraineprecision medicineSCN1A

Identifiers

PMID37510386
PMCPMC10378782
OpenAlexW4385068348

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.