Evidence map›Paper›PMID 36046422›Full record

ArticleNeurology. Genetics2022

Severe Epilepsy and Movement Disorder May Be Early Symptoms of

Roberta Solazzi, Marco Moscatelli, Davide Rossi Sebastiano, Laura Canafoglia, Laura Pezzoli, Maria Iascone, Tiziana Granata

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

Article in Neurology. Genetics, 2022. 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
0.4field-weighted citation impact, top 41% 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, 6 citations in OpenAlex.

  1. 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

7 authors at 2 institutions in 1 country.

Roberta SolazziDepartment of Pediatric Neuroscience (R.S., T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milan, Italy; Neuroradiology Unit (M.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Biomedical Sciences for Health (M.M.), University of Milan, Italy; Neurophysiology Unit (D.R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Integrated Diagnostics for Epilepsy (L.C.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; and Medical Genetics Laboratory (L.P., M.I.), ASST Papa Giovanni XXIII, Bergamo, Italy.
Marco MoscatelliDepartment of Pediatric Neuroscience (R.S., T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milan, Italy; Neuroradiology Unit (M.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Biomedical Sciences for Health (M.M.), University of Milan, Italy; Neurophysiology Unit (D.R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Integrated Diagnostics for Epilepsy (L.C.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; and Medical Genetics Laboratory (L.P., M.I.), ASST Papa Giovanni XXIII, Bergamo, Italy.
Davide Rossi SebastianoDepartment of Pediatric Neuroscience (R.S., T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milan, Italy; Neuroradiology Unit (M.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Biomedical Sciences for Health (M.M.), University of Milan, Italy; Neurophysiology Unit (D.R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Integrated Diagnostics for Epilepsy (L.C.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; and Medical Genetics Laboratory (L.P., M.I.), ASST Papa Giovanni XXIII, Bergamo, Italy.
Laura CanafogliaDepartment of Pediatric Neuroscience (R.S., T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milan, Italy; Neuroradiology Unit (M.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Biomedical Sciences for Health (M.M.), University of Milan, Italy; Neurophysiology Unit (D.R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Integrated Diagnostics for Epilepsy (L.C.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; and Medical Genetics Laboratory (L.P., M.I.), ASST Papa Giovanni XXIII, Bergamo, Italy.
Laura PezzoliDepartment of Pediatric Neuroscience (R.S., T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milan, Italy; Neuroradiology Unit (M.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Biomedical Sciences for Health (M.M.), University of Milan, Italy; Neurophysiology Unit (D.R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Integrated Diagnostics for Epilepsy (L.C.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; and Medical Genetics Laboratory (L.P., M.I.), ASST Papa Giovanni XXIII, Bergamo, Italy.
Maria IasconeDepartment of Pediatric Neuroscience (R.S., T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milan, Italy; Neuroradiology Unit (M.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Biomedical Sciences for Health (M.M.), University of Milan, Italy; Neurophysiology Unit (D.R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Integrated Diagnostics for Epilepsy (L.C.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; and Medical Genetics Laboratory (L.P., M.I.), ASST Papa Giovanni XXIII, Bergamo, Italy.
Tiziana GranataDepartment of Pediatric Neuroscience (R.S., T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milan, Italy; Neuroradiology Unit (M.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Biomedical Sciences for Health (M.M.), University of Milan, Italy; Neurophysiology Unit (D.R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Integrated Diagnostics for Epilepsy (L.C.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; and Medical Genetics Laboratory (L.P., M.I.), ASST Papa Giovanni XXIII, Bergamo, Italy.
University of Milan · ITFondazione IRCCS Istituto Neurologico Carlo Besta · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: To report the clinical presentation of the first Italian child affected by hypomyelinating leukodystrophy (HLD) associated with the recurrent variant p.Asp252Asn in the Methods: The methods included clinical case description, neurophysiologic assessment, brain MRI, and whole-exome sequencing (WES). Results: The child presented soon after birth with nystagmus and hyperkinetic movement disorder. Focal seizures appeared from 2 months of age and recurred at high frequency, despite several antiseizure medications, and focal epileptic status frequently required IV phenytoin. Control of seizures was achieved at the age of 8 months by the association of high doses of sodium blockers. Clinical picture worsened over time and was characterized by axial hypotonia, failure to thrive requiring gastrostomy, pyramidal sings, and severe secondary microcephaly. MRI performed at ages 2, 6, and 20 months showed diffuse supratentorial and subtentorial hypomyelination; multimodal evoked potentials showed increased latency. WES performed at 6 months of age identified the p.Asp252Asn de novo variant in the Discussion: Hyperkinetic movement disorders and seizures may be early symptoms of

Identifiers

PMID36046422
PMCPMC9425219
OpenAlexW4293499528

What OpenQuestion holds

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LicenceCC BY-NC-ND
Read underepoch 390

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.