Evidence map›Paper›PMID 33901312›Full record

ArticleEpilepsia2021

Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function.

Marcello Scala, Stephanie Efthymiou, Tipu Sultan, Jolien De Waele, Marta Panciroli, Vincenzo Salpietro, Reza Maroofian, Pasquale Striano, Filip Van Petegem, Henry Houlden and 1 more

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

Article in Epilepsia, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
2.2field-weighted citation impact, top 11% 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

15 citing papers in PubMed, 21 citations in OpenAlex.

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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

11 authors at 5 institutions in 5 countries.

Marcello ScalaDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.
Stephanie EfthymiouDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.ORCID 0000-0003-4900-9877
Tipu SultanDepartment of Pediatric Neurology, Children's Hospital and Institute of Child Health Lahore, Lahore, Pakistan.
Jolien De WaeleFaculty of Medicine and Health Sciences, Department of Basic and Applied Medical Sciences, Ghent University, Ghent, Belgium.
Marta PanciroliDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.
Vincenzo SalpietroDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.
Reza MaroofianDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.
Pasquale StrianoDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.ORCID 0000-0002-6065-1476
Filip Van PetegemDepartment of Biochemistry and Molecular Biology, Life Sciences Institute, University of British Columbia, Vancouver, British Columbia, Canada.
Henry HouldenDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.
Frank BosmansFaculty of Medicine and Health Sciences, Department of Basic and Applied Medical Sciences, Ghent University, Ghent, Belgium.ORCID 0000-0002-0451-6050
University College London · GBGhent University · BEIstituto Giannina Gaslini · ITPunjab Institute of Cardiology · PKUniversity of British Columbia · CA

Funding

Voltage-gated sodium channel modulation by Beta1 and Beta4 (R01NS091352)R01NS091352 · NINDS · JOHNS HOPKINS UNIVERSITY · PI BOSMANS, FRANK GERT WERNER · 2015 to 2019
$1.3M
CIHR PJT-148632Department of HealthMedical Research Council G0601943Medical Research Council MR/S005021/1Medical Research Council MR/S01165X/1NINDS NIH HHS R01 NS091352
6 · The paper itself

Abstract

We identified nine patients from four unrelated families harboring three biallelic variants in SCN1B (NM_001037.5: c.136C>T; p.[Arg46Cys], c.178C>T; p.[Arg60Cys], and c.472G>A; p.[Val158Met]). All subjects presented with early infantile epileptic encephalopathy 52 (EIEE52), a rare, severe developmental and epileptic encephalopathy featuring infantile onset refractory seizures followed by developmental stagnation or regression. Because SCN1B influences neuronal excitability through modulation of voltage-gated sodium (Na

Indexed as

ChildChild, PreschoolChromosome MappingDNADrug Resistant EpilepsyElectroencephalographyExomeFemaleGenetic VariationHumansInfantMaleModels, MolecularMutation, MissensePedigreeSeizuresDNASCN1B protein, humanVoltage-Gated Sodium Channel beta-1 SubunitVoltage-Gated Sodium Channelsdevelopmental and epileptic encephalopathyearly infantile epileptic encephalopathy 52EIEE52SCN1Bvoltage-gated sodium channel

Identifiers

PMID33901312
PMCPMC8585727
OpenAlexW3157437255

What OpenQuestion holds

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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.