Evidence map›Paper›PMID 30759289›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2019

Methylation of cation-chloride cotransporters NKCC1 and KCC2 in patients with juvenile myoclonic epilepsy.

Fatma Genç, Murat Kara, Yasemin Ünal, Elif Uygur Küçükseymen, Yasemin Biçer Gömceli, Taner Kaynar, Kürşad Tosun, Gülnihal Kutlu

Abstract read
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In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.5field-weighted citation impact, top 19% 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

9 citing papers in PubMed, 11 citations in OpenAlex.

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  6. Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020
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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

8 authors at 4 institutions in 2 countries.

Fatma GençAntalya Training and Research Hospital, Department of Neurology, Antalya, Turkey. sanivardr@yahoo.com.ORCID http://orcid.org/0000-0002-6062-3694
Murat Kara, Istanbul, Turkey.
Yasemin ÜnalFaculty of Medicine Department of Neurology, Muğla Sıtkı Koçman University, Muğla, Turkey.
Elif Uygur KüçükseymenNeuromodulation Center, Spaulding Rehabilitation Hospital, Harvard Medical School, Boston, MA, USA.
Yasemin Biçer GömceliAntalya Training and Research Hospital, Department of Neurology, Antalya, Turkey.
Taner KaynarSitogen Biomedical and Laboratory Systems Industrial Trade Limited Company, Zümrütevler mah. Hanımeli cad. Aktunç İşmerkezi No:13/1 Maltepe, İstanbul, Turkey.
Kürşad TosunSiena College, Loudonville, NY, USA.
Gülnihal KutluFaculty of Medicine Department of Neurology and Clinical Neurophysiology, Muğla Sıtkı Koçman University, Muğla, Turkey.
Antalya Eğitim ve Araştırma Hastanesi · TRMuğla University · TRHarvard University · USSiena College · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The etiology of juvenile myoclonic epilepsy (JME) is still unknown and the process of elaboration of multiple genetic mechanisms is ongoing. The aim of this study was to investigate the potential role of NKCC1 (SCL12A2) and KCC2 (SCL12A5) in JME by comparing their DNA methylation status in patients with JME versus healthy controls. Forty-nine patients with JME and 39 healthy individuals were compared for DNA methylation at the 5CpG islands. A total of 71 (81%) samples were found to have methylation in the NKCC1 gene, 36 (73%) from patients and 35 (90%) from healthy individuals. Out of the KCC2 samples, 50 (57%) were found to have methylation, 33 (67%) from patients and 17 (44%) from healthy individuals. In patients with JME, methylation of NKCC1 (73%) was lower than its methylation in the controls (90%) (p = 0.047). On the other hand, methylation of KCC2 in patients with JME (67%) was greater than the methylation in the controls (44%) (p = 0.022). Twenty-eight patients were treated with VPA and ongoing medications were not found to be associated with methylation (p > 0.05). In the present study, we determined significantly lower NKCC1 DNA methylation and significantly higher KCC2 DNA methylation levels in patients with JME compared with the healthy controls. This implies that NKCC1 expression can be higher and KCC2 expression can be reduced in affected people. Further studies that investigate the potential effect of DNA methylation mechanisms regulating gene expression on seizure activity and how they change JME network activity will be helpful.

Indexed as

DNA MethylationAdultFemaleGene Expression RegulationHumansK Cl- CotransportersMaleMyoclonic Epilepsy, JuvenilePromoter Regions, GeneticSolute Carrier Family 12, Member 2SymportersK Cl- CotransportersSLC12A2 protein, humanSLC12A5 protein, humanSolute Carrier Family 12, Member 2SymportersCation–chloride cotransporters NKCC1 (SCL12A2), KCC2 (SCL12A5)DNA methylationEpigeneticJuvenile myoclonic epilepsy

Identifiers

PMID30759289
OpenAlexW2914929076

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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.