Evidence map›Paper›PMID 32042915›Full record

ArticleNeurology. Genetics2020

Early infantile epileptic-dyskinetic encephalopathy due to biallelic

Annalisa Vetro, Tiziana Pisano, Silvia Chiaro, Elena Procopio, Azzurra Guerra, Elena Parrini, Davide Mei, Simona Virdò, Giusi Mangone, Chiara Azzari and 1 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
2.9field-weighted citation impact, top 9% 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

16 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Novel Biallelic Variant in theFrontiers in genetics · 2022
    Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Review
  16. Compound HeterozygousFrontiers in genetics · 2020
    Article
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

11 authors at 1 institution in 2 countries.

Annalisa VetroPediatric Neurology (A.V., T.P., S.C., E. Parrini, D.M., S.V., R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Metabolic and Muscular Unit (E. Procopio), Meyer Children's Hospital, University of Florence; Department of Medical and Surgical Science (A.G.), University of Modena and Reggio Emilia; Pediatric Immunology (G.M., C.A.), Department of Health Sciences, Meyer Children's Hospital, University of Florence; and IRCCS Stella Maris (R.G.), Pisa, Italy.ORCID 0000-0003-2437-7526
Tiziana PisanoPediatric Neurology (A.V., T.P., S.C., E. Parrini, D.M., S.V., R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Metabolic and Muscular Unit (E. Procopio), Meyer Children's Hospital, University of Florence; Department of Medical and Surgical Science (A.G.), University of Modena and Reggio Emilia; Pediatric Immunology (G.M., C.A.), Department of Health Sciences, Meyer Children's Hospital, University of Florence; and IRCCS Stella Maris (R.G.), Pisa, Italy.ORCID 0000-0001-8920-9078
Silvia ChiaroPediatric Neurology (A.V., T.P., S.C., E. Parrini, D.M., S.V., R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Metabolic and Muscular Unit (E. Procopio), Meyer Children's Hospital, University of Florence; Department of Medical and Surgical Science (A.G.), University of Modena and Reggio Emilia; Pediatric Immunology (G.M., C.A.), Department of Health Sciences, Meyer Children's Hospital, University of Florence; and IRCCS Stella Maris (R.G.), Pisa, Italy.
Elena ProcopioPediatric Neurology (A.V., T.P., S.C., E. Parrini, D.M., S.V., R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Metabolic and Muscular Unit (E. Procopio), Meyer Children's Hospital, University of Florence; Department of Medical and Surgical Science (A.G.), University of Modena and Reggio Emilia; Pediatric Immunology (G.M., C.A.), Department of Health Sciences, Meyer Children's Hospital, University of Florence; and IRCCS Stella Maris (R.G.), Pisa, Italy.ORCID 0000-0002-8534-9951
Azzurra GuerraPediatric Neurology (A.V., T.P., S.C., E. Parrini, D.M., S.V., R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Metabolic and Muscular Unit (E. Procopio), Meyer Children's Hospital, University of Florence; Department of Medical and Surgical Science (A.G.), University of Modena and Reggio Emilia; Pediatric Immunology (G.M., C.A.), Department of Health Sciences, Meyer Children's Hospital, University of Florence; and IRCCS Stella Maris (R.G.), Pisa, Italy.
Elena ParriniPediatric Neurology (A.V., T.P., S.C., E. Parrini, D.M., S.V., R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Metabolic and Muscular Unit (E. Procopio), Meyer Children's Hospital, University of Florence; Department of Medical and Surgical Science (A.G.), University of Modena and Reggio Emilia; Pediatric Immunology (G.M., C.A.), Department of Health Sciences, Meyer Children's Hospital, University of Florence; and IRCCS Stella Maris (R.G.), Pisa, Italy.ORCID 0000-0001-8933-7694
Davide MeiPediatric Neurology (A.V., T.P., S.C., E. Parrini, D.M., S.V., R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Metabolic and Muscular Unit (E. Procopio), Meyer Children's Hospital, University of Florence; Department of Medical and Surgical Science (A.G.), University of Modena and Reggio Emilia; Pediatric Immunology (G.M., C.A.), Department of Health Sciences, Meyer Children's Hospital, University of Florence; and IRCCS Stella Maris (R.G.), Pisa, Italy.ORCID 0000-0001-6790-6251
Simona VirdòPediatric Neurology (A.V., T.P., S.C., E. Parrini, D.M., S.V., R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Metabolic and Muscular Unit (E. Procopio), Meyer Children's Hospital, University of Florence; Department of Medical and Surgical Science (A.G.), University of Modena and Reggio Emilia; Pediatric Immunology (G.M., C.A.), Department of Health Sciences, Meyer Children's Hospital, University of Florence; and IRCCS Stella Maris (R.G.), Pisa, Italy.
Giusi MangonePediatric Neurology (A.V., T.P., S.C., E. Parrini, D.M., S.V., R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Metabolic and Muscular Unit (E. Procopio), Meyer Children's Hospital, University of Florence; Department of Medical and Surgical Science (A.G.), University of Modena and Reggio Emilia; Pediatric Immunology (G.M., C.A.), Department of Health Sciences, Meyer Children's Hospital, University of Florence; and IRCCS Stella Maris (R.G.), Pisa, Italy.
Chiara AzzariPediatric Neurology (A.V., T.P., S.C., E. Parrini, D.M., S.V., R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Metabolic and Muscular Unit (E. Procopio), Meyer Children's Hospital, University of Florence; Department of Medical and Surgical Science (A.G.), University of Modena and Reggio Emilia; Pediatric Immunology (G.M., C.A.), Department of Health Sciences, Meyer Children's Hospital, University of Florence; and IRCCS Stella Maris (R.G.), Pisa, Italy.ORCID 0000-0001-7236-1655
Renzo GuerriniPediatric Neurology (A.V., T.P., S.C., E. Parrini, D.M., S.V., R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Metabolic and Muscular Unit (E. Procopio), Meyer Children's Hospital, University of Florence; Department of Medical and Surgical Science (A.G.), University of Modena and Reggio Emilia; Pediatric Immunology (G.M., C.A.), Department of Health Sciences, Meyer Children's Hospital, University of Florence; and IRCCS Stella Maris (R.G.), Pisa, Italy.ORCID 0000-0002-7272-7079
University of Modena and Reggio Emilia · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo describe clinical, biochemical, and molecular genetic findings in a large inbred family in which 4 children with a severe early-onset epileptic-dyskinetic encephalopathy, with suppression burst EEG, harbored homozygous mutations of phosphatidylinositol glycan anchor biosynthesis, class P (

methodsWe studied clinical features, EEG, brain MRI scans, whole-exome sequencing (WES), and measured the expression of a subset of GPI-anchored proteins (GPI-APs) in circulating granulocytes using flow cytometry.

resultsThe 4 affected children exhibited a severe neurodevelopmental disorder featuring severe hypotonia with early dyskinesia progressing to quadriplegia, associated with infantile spasms, focal, tonic, and tonic-clonic seizures and a burst suppression EEG pattern. Two of the children died prematurely between age 2 and 12 years; the remaining 2 children are aged 2 years 7 months and 7 years 4 months. The homozygous c.384del variant of

conclusions

Identifiers

PMID32042915
PMCPMC6984131
OpenAlexW2998485039

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Registered trials

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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.