Evidence map›Paper›PMID 32440981›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2020

Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.

Silvia Ferranti, Caterina Lo Rizzo, Alessandra Renieri, Paolo Galluzzi, Salvatore Grosso

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020. 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
0.3field-weighted citation impact, top 47% 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, 4 citations in OpenAlex.

  1. Article
  2. Celia's Encephalopathy (Journal of clinical medicine · 2021
    Review
  3. Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Silvia FerrantiDipartimento di Medicina Molecolare e dello Sviluppo, Universita' degli Studi di Siena, viale Bracci 16, 53100, Siena, Italy. silvia.ferranti@hotmail.it.ORCID https://orcid.org/0000-0001-7622-8536
Caterina Lo RizzoGenetica Medica, Azienda Ospedaliera Universitaria Senese, viale Bracci 2, 53100, Siena, Italy.
Alessandra RenieriGenetica Medica, Azienda Ospedaliera Universitaria Senese, viale Bracci 2, 53100, Siena, Italy.
Paolo GalluzziU.O.C. Neuroimmagini e Neurointerventistica (NINT), Azienda Ospedaliera Universitaria Senese, viale Bracci 16, 53100, Siena, Italy.
Salvatore GrossoDipartimento di Medicina Molecolare e dello Sviluppo, Universita' degli Studi di Siena, viale Bracci 16, 53100, Siena, Italy.
University of Siena · ITAzienda Ospedaliera Universitaria Senese · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionBerardinelli-Seip syndrome or congenital generalized lipodystrophy type 2 is a rare genetic disorder characterized by selective loss of subcutaneous adipose tissue associated with peripheral insulin resistance and its complications. Nonprogressive mental retardation, dystonia, ataxia, and pyramidal signs are commonly present, whereas epilepsy has only occasionally been observed. CASE REPORT: We report the case of two sisters, 11 and 18 years old respectively, with an overlapping clinical phenotype compatible with Berardinelli-Seip syndrome and progressive myoclonic epilepsy. Molecular analysis identified an autosomal recessive c.1048C > t;(p(Arg350*)) pathogenic mutation of exon 8 of the BSCL2 gene, which was present in a homozygous state in both patients.

conclusionsOur paper contributes to further delineate a complex phenotype associated with BSCL2 mutation, underlining how seipin has a central and partially still unknown role that goes beyond adipose tissue metabolism, with a prominent involvement in central nervous system pathology.

Indexed as

GTP-Binding Protein gamma SubunitsLipodystrophy, Congenital GeneralizedMyoclonic Epilepsies, ProgressiveAdipose TissueAdolescentChildHumansPhenotypeBSCL2 protein, humanGTP-Binding Protein gamma SubunitsBerardinelli-Seip syndromeCongenital Generalized Lipodystrophy type 2Progressive Myoclonic EpilepsySeipin

Identifiers

PMID32440981
OpenAlexW3028280295

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.