Evidence map›Paper›PMID 31808001›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2020

Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach.

Muhammad Ilyas, Vincenzo Salpietro, Stephanie Efthymiou, Thomas Bourinaris, Ayesha Tariq, Maria Imdad, Akmal Ahmad, Habib Ahmad, Henry Houlden

Open access · greenAbstract read
PubMed Publisher
In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 37% 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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.

  1. Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023
    Pooled it
  2. Article
  3. Gene therapies alleviate absence epilepsy associated withbioRxiv : the preprint server for biology · 2025
    Article
  4. Article
  5. Article
  6. Article
  7. Review
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

9 authors at 3 institutions in 2 countries.

Muhammad IlyasNeurogenetics, Institute of Neurology, University College London, London, WC1N 3BG, UK. milyaskh@hotmail.com.ORCID http://orcid.org/0000-0001-9357-123X
Vincenzo SalpietroNeurogenetics, Institute of Neurology, University College London, London, WC1N 3BG, UK.
Stephanie EfthymiouNeurogenetics, Institute of Neurology, University College London, London, WC1N 3BG, UK.
Thomas BourinarisNeurogenetics, Institute of Neurology, University College London, London, WC1N 3BG, UK.
Ayesha TariqCentre for Human Genetics, Hazara University Mansehra, Dhodial, Pakistan.
Maria ImdadCentre for Human Genetics, Hazara University Mansehra, Dhodial, Pakistan.
Akmal AhmadCentre for Human Genetics, Hazara University Mansehra, Dhodial, Pakistan.
Habib AhmadGenome Informatics Lab, Centre for Omic Sciences, Islamia College, Peshawar, Pakistan.
Henry HouldenNeurogenetics, Institute of Neurology, University College London, London, WC1N 3BG, UK.
University College London · GBHazara University · PKIslamia College University · PK

Funding

Medical Research Council G0802760Medical Research Council G1001253Medical Research Council G108/638Medical Research Council MR/S01165X/1The Dunhill Medical Trust R605/0717
6 · The paper itself

Abstract

Emerging data have established links between paroxysmal neurological disorders or psychiatric disorder, such as migraine, ataxia, movement disorders and epilepsy. Common gene signatures such as expression, protein interaction and the associated signalling pathways link genes in these associated disorders, with the object to predict unknown disease or risk genes. In this study, we used gene interaction networks to investigate common gene signatures associated with the above phenotypes. In total, 19 candidate genes were used for making an interaction network which further revealed 39 associated genes (including KCNA1, SCN2A, CACNA1A, KCNM4, KCNO3, SCN1B and CACNB4) implicated in paroxysmal neurological disorders development and progression. The meta-regression analysis showed the strongest association of SCN2A with genes involved in schizophrenia and neurodevelopmental disorders. Importantly, our analysis showed KCNMA1 as a common gene signature with a link to epilepsy, movement disorders and wide paroxysmal neurological presentations-with the greatest potential risk of being a disease gene in a paroxysmal or psychiatric disorder. Further gene interaction analysis is required to identify unidentified gene interactions which may be targets for future drugs development.

Indexed as

AtaxiaEpilepsyGene Regulatory NetworksGenetic MarkersHumansMigraine DisordersMovement DisordersGenetic MarkersAtaxiaKinesigenicMigraineParoxysmal neurological disorder

Identifiers

PMID31808001
OpenAlexW2992861178

What OpenQuestion holds

Textmetadata
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.