Evidence map›Paper›PMID 36398398›Full record

ArticleEpilepsia2023

Short- and long-interval intracortical inhibition in EPM1 is related to genotype.

Katri Silvennoinen, Laura Säisänen, Jelena Hyppönen, Saara M Rissanen, Pasi A Karjalainen, Sasha D'Ambrosio, Diego Jimenez-Jimenez, Sara Zagaglia, John C Rothwell, Simona Balestrini and 4 more

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

Article in Epilepsia, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.9field-weighted citation impact, top 14% 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

8 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Review
  3. Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024
    Article
  4. Article
  5. Review
  6. Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors at 6 institutions in 3 countries.

Katri SilvennoinenKuopio Epilepsy Center, Neurocenter, Member of ERN EpiCARE, Kuopio University Hospital, Kuopio, Finland.ORCID 0000-0001-8456-0029
Laura SäisänenDepartment of Clinical Neurophysiology, Kuopio Epilepsy Center, Neurocenter, Member of ERN EpiCARE, Kuopio University Hospital, Kuopio, Finland.
Jelena HyppönenDepartment of Clinical Neurophysiology, Kuopio Epilepsy Center, Neurocenter, Member of ERN EpiCARE, Kuopio University Hospital, Kuopio, Finland.
Saara M RissanenDepartment of Applied Physics, University of Eastern Finland, Kuopio, Finland.
Pasi A KarjalainenDepartment of Applied Physics, University of Eastern Finland, Kuopio, Finland.
Sasha D'AmbrosioDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-6600-6419
Diego Jimenez-JimenezDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
Sara ZagagliaDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
John C RothwellSobell Department of Motor Neuroscience and Movement Disorders, UCL Queen Square Institute of Neurology, London, UK.
Simona BalestriniDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0001-5639-1969
Sanjay M SisodiyaDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-1511-5893
Petro JulkunenDepartment of Clinical Neurophysiology, Kuopio Epilepsy Center, Neurocenter, Member of ERN EpiCARE, Kuopio University Hospital, Kuopio, Finland.ORCID 0000-0002-0461-1058
Esa MervaalaDepartment of Clinical Neurophysiology, Kuopio Epilepsy Center, Neurocenter, Member of ERN EpiCARE, Kuopio University Hospital, Kuopio, Finland.
Reetta KälviäinenKuopio Epilepsy Center, Neurocenter, Member of ERN EpiCARE, Kuopio University Hospital, Kuopio, Finland.ORCID 0000-0003-2935-5131
University of Eastern Finland · FINational Hospital for Neurology and Neurosurgery · GBKuopio University Hospital · FIMeyer Children's Hospital · ITSobell House · GBUniversity of Milan · IT

Funding

Wellcome TrustWellcome Trust WT104033AIA
6 · The paper itself

Abstract

objectiveProgressive myoclonic epilepsy type 1 (EPM1) is caused by biallelic alterations in the CSTB gene, most commonly dodecamer repeat expansions. Although transcranial magnetic stimulation (TMS)-induced long-interval intracortical inhibition (LICI) was previously reported to be normal in EPM1, short-interval intracortical inhibition (SICI) was reduced. We explored the association between these measures and the clinical and genetic features in a separate group of patients with EPM1.

methodsTMS combined with electromyography was performed under neuronavigation. LICI was induced with an inter-stimulus interval (ISI) of 100 ms, and SICI with ISIs of 2 and 3 ms, and their means (mSICIs) were expressed as the ratio of conditioned to unconditioned stimuli. LICI and mSICI were compared between patients and controls. Nonparametric correlation was used to study the association between inhibition and parameters of clinical severity, including the Unified Myoclonus Rating Scale (UMRS); among patients with EPM1 due to biallelic expansion repeats, also the association with the number of repeats was assessed.

resultsThe study protocol was completed in 19 patients (15 with biallelic expansion repeats and 4 compound heterozygotes), and 7 healthy, age- and sex-matched control participants. Compared to controls, patients demonstrated significantly less SICI (median mSICI ratio 1.18 vs 0.38; p < .001). Neither LICI nor SICI was associated with parameters of clinical severity. In participants with biallelic repeat expansions, the number of repeats in the more affected allele (greater repeat number [GRN]) correlated with LICI (rho = 0.872; p < .001) and SICI (rho = 0.689; p = .006). SIGNIFICANCE: Our results strengthen the finding of deranged γ-aminobutyric acid (GABA)ergic inhibition in EPM1. LICI and SICI may have use as markers of GABAergic impairment in future trials of disease-modifying treatment in this condition. Whether a higher number of expansion repeats leads to greater GABAergic impairment warrants further study.

Indexed as

Motor CortexNeural InhibitionElectromyographyEvoked Potentials, MotorGenotypeHumansTranscranial Magnetic StimulationLICIprogressive myoclonic epilepsySICItranscranial magnetic stimulationUnverricht-Lundborg disease

Identifiers

PMID36398398
PMCPMC10107775
OpenAlexW4309279293

What OpenQuestion holds

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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.