Evidence map›Paper›PMID 35633140›Full record

ArticleAnnals of clinical and translational neurology2022

Carbamazepine efficacy in a severe electro-clinical presentation of SLC13A5-epilepsy.

Roberto Santalucia, Catheline Vilain, Julie Soblet, Corinne De Laet, Aline Vuckovic, Jörg König, Alec Aeby

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

Article in Annals of clinical and translational neurology, 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
0.7field-weighted citation impact, top 31% 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, 5 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 3 institutions in 2 countries.

Roberto SantaluciaPediatric Neurology Unit, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.ORCID 0000-0003-2292-8881
Catheline VilainULB-Center of Human Genetics, Brussels, Belgium.
Julie SobletULB-Center of Human Genetics, Brussels, Belgium.
Corinne De LaetMetabolic Diseases Unit, Queen Fabiola Children's Hospital-ULB, Brussels, Belgium.
Aline VuckovicNeonatal Intensive Care Unit, Queen Fabiola Children's Hospital-ULB, Brussels, Belgium.
Jörg KönigInstitute of Experimental and Clinical Pharmacology and Toxicology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Alec AebyDepartment of Pediatric Neurology, Queen Fabiola Children's Hospital-ULB, Brussels, Belgium.
Queen Fabiola Children's University Hospital · BECliniques Universitaires Saint-Luc · BEFriedrich-Alexander-Universität Erlangen-Nürnberg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recessive mutations in the SLC13A5 gene encoding the sodium-dependent citrate transporter are a recently identified cause of developmental and epileptic encephalopathy. Here, we describe a child harboring a novel homozygous loss-of-function mutation in the SLC13A5 gene (c.1496C>T-p.Ser499Phe) and exhibiting an unusual extremely severe neonatal presentation with drug-resistant seizures and burst-suppression EEG pattern. Early carbamazepine use resulted in dramatic improvement both clinically and on EEG features. Follow-up from the neonatal period to the age of 4 years is documented. This case expands the electro-clinical phenotype associated with SLC13A5-related disease and confirms the efficacy and safety of carbamazepine in nonstructural early-onset epilepsies.

Indexed as

EpilepsySymportersBenzodiazepinesCarbamazepineHumansMutationPhenotypeBenzodiazepinesCarbamazepineSLC13A5 protein, humanSymporters

Identifiers

PMID35633140
PMCPMC9268890
OpenAlexW4281761642

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.