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

Ilyas, M; Salpietro, V; Efthymiou, S; Bourinaris, T; Tariq, A; Imdad, M; Ahmad, A; ... Houlden, H; + view all (2020) Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach. Neurological Sciences , 41 pp. 851-857. 10.1007/s10072-019-04113-w. Green open access

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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.

Type: Article
Title: Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach
Open access status: An open access version is available from UCL Discovery
DOI: 10.1007/s10072-019-04113-w
Publisher version: https://doi.org/10.1007/s10072-019-04113-w
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions.
Keywords: Paroxysmal neurological disorder, Migraine, Ataxia, Kinesigenic
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10094725
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