Evidence map›Paper›PMID 37609289›Full record

ArticleResearch square2023

Expanding the genotype-phenotype spectrum in SCN8A-related disorders.

Malavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, Cyrus Boelman, Richard A Dean, Samuel J Goodchild, Janette Mezeyova, Noah Gregory Shuart, J P Johnson, James Lee and 5 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in Research square, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors.

Malavika HebbarDivision of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC.
Nawaf Al-TaweelDivision of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC.
Inderpal GillDivision of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC.
Cyrus BoelmanDivision of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC.
Richard A DeanXenon Pharmaceuticals, 200-3650 Gilmore Way, Burnaby, BC V5G 4W8.
Samuel J GoodchildXenon Pharmaceuticals, 200-3650 Gilmore Way, Burnaby, BC V5G 4W8.
Janette MezeyovaXenon Pharmaceuticals, 200-3650 Gilmore Way, Burnaby, BC V5G 4W8.
Noah Gregory ShuartXenon Pharmaceuticals, 200-3650 Gilmore Way, Burnaby, BC V5G 4W8.
J P JohnsonXenon Pharmaceuticals, 200-3650 Gilmore Way, Burnaby, BC V5G 4W8.
James LeeDivision of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC.
Aspasia MichoulasDivision of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC.
Linda L HuhDivision of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC.
Linlea ArmstrongDepartment of Medical Genetics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC.
Mary B ConnollyDivision of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC.
Michelle K DemosDivision of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC.

Funding

Genomic Diagnosis in Children with Developmental DelayUM1HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI COOPER, GREGORY MICHAEL, MYERS, RICHARD M · 2013 to 2016
$7.5M
NHGRI NIH HHS UM1 HG007301
6 · The paper itself

Abstract

Background: Methods: In this study, we describe clinical and genetic results on eight individuals from six families with Results: Clinical findings ranged from normal development with well-controlled epilepsy to significant developmental delay with treatment-resistant epilepsy. Three novel and three reported variants were observed in Conclusions: This work expands the clinical and genotypic spectrum of

Indexed as

Developmental and Epileptic EncephalopathyElectrophysiological studyEpilepsyExome sequencingGain-of-functionLoss-of-functionSCN8ASeizureVariant of Uncertain Significance

Identifiers

PMID37609289
PMCPMC10441468

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.